US11840730B1 - Methods and compositions for evaluating genetic markers - Google Patents
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- US11840730B1 US11840730B1 US16/952,764 US202016952764A US11840730B1 US 11840730 B1 US11840730 B1 US 11840730B1 US 202016952764 A US202016952764 A US 202016952764A US 11840730 B1 US11840730 B1 US 11840730B1
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Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US9085798B2 (en) | 2009-04-30 | 2015-07-21 | Prognosys Biosciences, Inc. | Nucleic acid constructs and methods of use |
JP2012525147A (ja) | 2009-04-30 | 2012-10-22 | グッド スタート ジェネティクス, インコーポレイテッド | 遺伝マーカーを評価するための方法および組成物 |
US20190300945A1 (en) | 2010-04-05 | 2019-10-03 | Prognosys Biosciences, Inc. | Spatially Encoded Biological Assays |
ES2555106T3 (es) | 2010-04-05 | 2015-12-29 | Prognosys Biosciences, Inc. | Ensayos biológicos codificados espacialmente |
US10787701B2 (en) | 2010-04-05 | 2020-09-29 | Prognosys Biosciences, Inc. | Spatially encoded biological assays |
US20140057799A1 (en) | 2010-12-16 | 2014-02-27 | Gigagen | System and Methods for Massively Parallel Analysis of Nucleic Acids in Single Cells |
US9163281B2 (en) | 2010-12-23 | 2015-10-20 | Good Start Genetics, Inc. | Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction |
GB201106254D0 (en) | 2011-04-13 | 2011-05-25 | Frisen Jonas | Method and product |
EP2697397B1 (fr) | 2011-04-15 | 2017-04-05 | The Johns Hopkins University | Système de séquençage sûr |
EP2729580B1 (fr) | 2011-07-08 | 2015-09-16 | Keygene N.V. | Génotypage à base de séquence en fonction d'analyses de ligature d'oligonucléotides |
CA2852665A1 (fr) | 2011-10-17 | 2013-04-25 | Good Start Genetics, Inc. | Methodes d'identification de mutations associees a des maladies |
US20150031555A1 (en) * | 2012-01-24 | 2015-01-29 | Gigagen, Inc. | Method for correction of bias in multiplexed amplification |
SI3363901T1 (sl) | 2012-02-17 | 2021-04-30 | Fred Hutchinson Cancer Research Center | Sestavki in postopki za natančno identifikacijo mutacij |
US8209130B1 (en) | 2012-04-04 | 2012-06-26 | Good Start Genetics, Inc. | Sequence assembly |
US8812422B2 (en) | 2012-04-09 | 2014-08-19 | Good Start Genetics, Inc. | Variant database |
US10227635B2 (en) | 2012-04-16 | 2019-03-12 | Molecular Loop Biosolutions, Llc | Capture reactions |
AU2013338393B2 (en) | 2012-10-29 | 2017-05-11 | The Johns Hopkins University | Papanicolaou test for ovarian and endometrial cancers |
US8778609B1 (en) * | 2013-03-14 | 2014-07-15 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
CA2907177A1 (fr) * | 2013-03-15 | 2014-09-18 | Good Start Genetics, Inc. | Procedes et compositions pour l'evaluation de marqueurs genetiques |
CA2905527C (fr) * | 2013-03-15 | 2023-10-03 | Lyle J. Arnold | Procedes pour l'amplification d'acides nucleiques a l'aide d'oligonucleotides clamp |
US20160055293A1 (en) * | 2013-03-29 | 2016-02-25 | University Of Washington Through Its Center For Commercialization | Systems, Algorithms, and Software for Molecular Inversion Probe (MIP) Design |
WO2014197377A2 (fr) | 2013-06-03 | 2014-12-11 | Good Start Genetics, Inc. | Procédés et systèmes pour stocker des données de lecture de séquence |
DK3013983T3 (da) | 2013-06-25 | 2023-03-06 | Prognosys Biosciences Inc | Spatialt kodede biologiske assays ved brug af en mikrofluidisk anordning |
US20150141257A1 (en) * | 2013-08-02 | 2015-05-21 | Roche Nimblegen, Inc. | Sequence capture method using specialized capture probes (heatseq) |
US10851414B2 (en) | 2013-10-18 | 2020-12-01 | Good Start Genetics, Inc. | Methods for determining carrier status |
US11041203B2 (en) | 2013-10-18 | 2021-06-22 | Molecular Loop Biosolutions, Inc. | Methods for assessing a genomic region of a subject |
US9824068B2 (en) | 2013-12-16 | 2017-11-21 | 10X Genomics, Inc. | Methods and apparatus for sorting data |
WO2015175530A1 (fr) | 2014-05-12 | 2015-11-19 | Gore Athurva | Procédés pour la détection d'aneuploïdie |
CN113046413A (zh) * | 2014-06-06 | 2021-06-29 | 康奈尔大学 | 从血液特异性靶向捕获人类基因组和转录组区域的方法 |
MX2016016713A (es) | 2014-06-26 | 2017-05-23 | 10X Genomics Inc | Procesos y sistemas para el montaje de secuencias de acido nucleico. |
WO2016040446A1 (fr) | 2014-09-10 | 2016-03-17 | Good Start Genetics, Inc. | Procédés permettant la suppression sélective de séquences non cibles |
JP2017536087A (ja) | 2014-09-24 | 2017-12-07 | グッド スタート ジェネティクス, インコーポレイテッド | 遺伝子アッセイのロバストネスを増大させるためのプロセス制御 |
WO2016112073A1 (fr) | 2015-01-06 | 2016-07-14 | Good Start Genetics, Inc. | Criblage de variants structuraux |
MX2017008916A (es) | 2015-01-13 | 2017-10-19 | 10X Genomics Inc | Sistemas y metodos para visualizar informacion de fases y variaciones estructurales. |
CN107208156B (zh) | 2015-02-09 | 2021-10-08 | 10X基因组学有限公司 | 用于使用变异识别数据来确定结构变异和定相的系统和方法 |
JP6828007B2 (ja) | 2015-04-10 | 2021-02-10 | スペーシャル トランスクリプトミクス アクチボラグ | 生物学的試料の空間識別されるマルチプレックスな核酸分析 |
US9422547B1 (en) | 2015-06-09 | 2016-08-23 | Gigagen, Inc. | Recombinant fusion proteins and libraries from immune cell repertoires |
CA2993347A1 (fr) * | 2015-07-29 | 2017-02-02 | Progenity, Inc. | Acides nucleiques et procedes de detection d'anomalies chromosomiques |
WO2017020024A2 (fr) * | 2015-07-29 | 2017-02-02 | Progenity, Inc. | Systèmes et procédés d'analyse génétique |
US11286531B2 (en) | 2015-08-11 | 2022-03-29 | The Johns Hopkins University | Assaying ovarian cyst fluid |
SG11201806757XA (en) | 2016-02-11 | 2018-09-27 | 10X Genomics Inc | Systems, methods, and media for de novo assembly of whole genome sequence data |
CN110392739B (zh) * | 2017-03-20 | 2024-01-16 | 张立峰 | 检测dna突变的测序方法 |
US11584958B2 (en) | 2017-03-31 | 2023-02-21 | Grail, Llc | Library preparation and use thereof for sequencing based error correction and/or variant identification |
US11519033B2 (en) | 2018-08-28 | 2022-12-06 | 10X Genomics, Inc. | Method for transposase-mediated spatial tagging and analyzing genomic DNA in a biological sample |
EP3894586A2 (fr) | 2018-12-10 | 2021-10-20 | 10X Genomics, Inc. | Procédés de détermination d'un emplacement d'un analyte biologique dans un échantillon biologique |
US11649485B2 (en) | 2019-01-06 | 2023-05-16 | 10X Genomics, Inc. | Generating capture probes for spatial analysis |
US11926867B2 (en) | 2019-01-06 | 2024-03-12 | 10X Genomics, Inc. | Generating capture probes for spatial analysis |
EP3941491A4 (fr) | 2019-03-21 | 2023-03-29 | Gigamune, Inc. | Cellules modifiées exprimant des récepteurs de lymphocytes t anti-viraux et leurs méthodes d'utilisation |
EP3947718A4 (fr) | 2019-04-02 | 2022-12-21 | Enumera Molecular, Inc. | Procédés, systèmes et compositions de comptage de molécules d'acide nucléique |
EP3976820A1 (fr) | 2019-05-30 | 2022-04-06 | 10X Genomics, Inc. | Procédés de détection de l'hétérogénéité spatiale d'un échantillon biologique |
WO2021092433A2 (fr) | 2019-11-08 | 2021-05-14 | 10X Genomics, Inc. | Amélioration de la spécificité de la liaison d'un analyte |
WO2021091611A1 (fr) | 2019-11-08 | 2021-05-14 | 10X Genomics, Inc. | Agents de capture d'analytes marqués spatialement pour le multiplexage d'analytes |
EP3891300B1 (fr) | 2019-12-23 | 2023-03-29 | 10X Genomics, Inc. | Procédés d'analyse spatiale utilisant une ligature à matrice d'arn |
US11732299B2 (en) | 2020-01-21 | 2023-08-22 | 10X Genomics, Inc. | Spatial assays with perturbed cells |
US11702693B2 (en) | 2020-01-21 | 2023-07-18 | 10X Genomics, Inc. | Methods for printing cells and generating arrays of barcoded cells |
US11821035B1 (en) | 2020-01-29 | 2023-11-21 | 10X Genomics, Inc. | Compositions and methods of making gene expression libraries |
US11898205B2 (en) | 2020-02-03 | 2024-02-13 | 10X Genomics, Inc. | Increasing capture efficiency of spatial assays |
US11732300B2 (en) | 2020-02-05 | 2023-08-22 | 10X Genomics, Inc. | Increasing efficiency of spatial analysis in a biological sample |
US11835462B2 (en) | 2020-02-11 | 2023-12-05 | 10X Genomics, Inc. | Methods and compositions for partitioning a biological sample |
US11891654B2 (en) | 2020-02-24 | 2024-02-06 | 10X Genomics, Inc. | Methods of making gene expression libraries |
US11926863B1 (en) | 2020-02-27 | 2024-03-12 | 10X Genomics, Inc. | Solid state single cell method for analyzing fixed biological cells |
US11768175B1 (en) | 2020-03-04 | 2023-09-26 | 10X Genomics, Inc. | Electrophoretic methods for spatial analysis |
WO2021216622A1 (fr) * | 2020-04-21 | 2021-10-28 | Aspen Neuroscience, Inc. | Édition génique de gba1 dans des cellules souches et procédé d'utilisation de cellules différenciées à partir de celles-ci |
EP4242325A3 (fr) | 2020-04-22 | 2023-10-04 | 10X Genomics, Inc. | Procédés d'analyse spatiale utilisant un appauvrissement d'arn ciblée |
AU2021275906A1 (en) | 2020-05-22 | 2022-12-22 | 10X Genomics, Inc. | Spatial analysis to detect sequence variants |
EP4153775A1 (fr) | 2020-05-22 | 2023-03-29 | 10X Genomics, Inc. | Mesure spatio-temporelle simultanée de l'expression génique et de l'activité cellulaire |
WO2021242834A1 (fr) | 2020-05-26 | 2021-12-02 | 10X Genomics, Inc. | Procédé de réinitialisation d'un réseau |
WO2021247543A2 (fr) | 2020-06-02 | 2021-12-09 | 10X Genomics, Inc. | Procédés de banques d'acides nucléiques |
AU2021283184A1 (en) | 2020-06-02 | 2023-01-05 | 10X Genomics, Inc. | Spatial transcriptomics for antigen-receptors |
EP4162074B1 (fr) | 2020-06-08 | 2024-04-24 | 10X Genomics, Inc. | Méthodes de détermination de marge chirurgicale et méthodes d'utilisation associées |
WO2021252591A1 (fr) | 2020-06-10 | 2021-12-16 | 10X Genomics, Inc. | Procédés de détermination d'un emplacement d'un analyte dans un échantillon biologique |
WO2021263111A1 (fr) | 2020-06-25 | 2021-12-30 | 10X Genomics, Inc. | Analyse spatiale de la méthylation de l'adn |
US11761038B1 (en) | 2020-07-06 | 2023-09-19 | 10X Genomics, Inc. | Methods for identifying a location of an RNA in a biological sample |
US11926822B1 (en) | 2020-09-23 | 2024-03-12 | 10X Genomics, Inc. | Three-dimensional spatial analysis |
US11827935B1 (en) | 2020-11-19 | 2023-11-28 | 10X Genomics, Inc. | Methods for spatial analysis using rolling circle amplification and detection probes |
AU2021409136A1 (en) | 2020-12-21 | 2023-06-29 | 10X Genomics, Inc. | Methods, compositions, and systems for capturing probes and/or barcodes |
AU2022238446A1 (en) | 2021-03-18 | 2023-09-07 | 10X Genomics, Inc. | Multiplex capture of gene and protein expression from a biological sample |
EP4196605A1 (fr) | 2021-09-01 | 2023-06-21 | 10X Genomics, Inc. | Procédés, compositions et kits pour bloquer une sonde de capture sur un réseau spatial |
Citations (337)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4683195A (en) | 1986-01-30 | 1987-07-28 | Cetus Corporation | Process for amplifying, detecting, and/or-cloning nucleic acid sequences |
US4988617A (en) | 1988-03-25 | 1991-01-29 | California Institute Of Technology | Method of detecting a nucleotide change in nucleic acids |
US5060980A (en) | 1990-05-30 | 1991-10-29 | Xerox Corporation | Form utilizing encoded indications for form field processing |
US5210015A (en) | 1990-08-06 | 1993-05-11 | Hoffman-La Roche Inc. | Homogeneous assay system using the nuclease activity of a nucleic acid polymerase |
US5234809A (en) | 1989-03-23 | 1993-08-10 | Akzo N.V. | Process for isolating nucleic acid |
US5242794A (en) | 1984-12-13 | 1993-09-07 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
US5348853A (en) | 1991-12-16 | 1994-09-20 | Biotronics Corporation | Method for reducing non-specific priming in DNA amplification |
WO1995011995A1 (fr) | 1993-10-26 | 1995-05-04 | Affymax Technologies N.V. | Reseaux de sondes d'acide nucleique sur des microplaquettes biologiques |
US5434049A (en) | 1992-02-28 | 1995-07-18 | Hitachi, Ltd. | Separation of polynucleotides using supports having a plurality of electrode-containing cells |
US5459307A (en) | 1993-11-30 | 1995-10-17 | Xerox Corporation | System for storage and retrieval of digitally encoded information on a medium |
US5486686A (en) | 1990-05-30 | 1996-01-23 | Xerox Corporation | Hardcopy lossless data storage and communications for electronic document processing systems |
US5491224A (en) | 1990-09-20 | 1996-02-13 | Bittner; Michael L. | Direct label transaminated DNA probe compositions for chromosome identification and methods for their manufacture |
US5494810A (en) | 1990-05-03 | 1996-02-27 | Cornell Research Foundation, Inc. | Thermostable ligase-mediated DNA amplifications system for the detection of genetic disease |
WO1996019586A1 (fr) | 1994-12-22 | 1996-06-27 | Visible Genetics Inc. | Procede et composition destines a l'identification interne d'echantillons |
US5567583A (en) | 1991-12-16 | 1996-10-22 | Biotronics Corporation | Methods for reducing non-specific priming in DNA detection |
US5583024A (en) | 1985-12-02 | 1996-12-10 | The Regents Of The University Of California | Recombinant expression of Coleoptera luciferase |
US5604097A (en) | 1994-10-13 | 1997-02-18 | Spectragen, Inc. | Methods for sorting polynucleotides using oligonucleotide tags |
US5636400A (en) | 1995-08-07 | 1997-06-10 | Young; Keenan L. | Automatic infant bottle cleaner |
US5695934A (en) | 1994-10-13 | 1997-12-09 | Lynx Therapeutics, Inc. | Massively parallel sequencing of sorted polynucleotides |
US5701256A (en) | 1995-05-31 | 1997-12-23 | Cold Spring Harbor Laboratory | Method and apparatus for biological sequence comparison |
WO1998014275A1 (fr) | 1996-10-04 | 1998-04-09 | Intronn Llc | Dispositifs et procedes servant a prelever des specimens au moyen de marqueurs et utilisation de ces marqueurs pour determiner la valeur d'un specimen, l'evaluer ou le certifier en laboratoire |
WO1998044151A1 (fr) | 1997-04-01 | 1998-10-08 | Glaxo Group Limited | Methode d'amplification d'acide nucleique |
US5830064A (en) | 1996-06-21 | 1998-11-03 | Pear, Inc. | Apparatus and method for distinguishing events which collectively exceed chance expectations and thereby controlling an output |
US5846719A (en) | 1994-10-13 | 1998-12-08 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US5866337A (en) | 1995-03-24 | 1999-02-02 | The Trustees Of Columbia University In The City Of New York | Method to detect mutations in a nucleic acid using a hybridization-ligation procedure |
US5869717A (en) | 1997-09-17 | 1999-02-09 | Uop Llc | Process for inhibiting the polymerization of vinyl aromatics |
US5869252A (en) | 1992-03-31 | 1999-02-09 | Abbott Laboratories | Method of multiplex ligase chain reaction |
US5871921A (en) | 1994-02-16 | 1999-02-16 | Landegren; Ulf | Circularizing nucleic acid probe able to interlock with a target sequence through catenation |
US5888788A (en) | 1994-05-18 | 1999-03-30 | Union Nationale Des Groupements De Distillateurs D'alcool (Ungda) | Use of ionophoretic polyether antibiotics for controlling bacterial growth in alcoholic fermentation |
US5942391A (en) | 1994-06-22 | 1999-08-24 | Mount Sinai School Of Medicine | Nucleic acid amplification method: ramification-extension amplification method (RAM) |
US5971921A (en) | 1998-06-11 | 1999-10-26 | Advanced Monitoring Devices, Inc. | Medical alarm system and methods |
US5993611A (en) | 1997-09-24 | 1999-11-30 | Sarnoff Corporation | Capacitive denaturation of nucleic acid |
US5994056A (en) | 1991-05-02 | 1999-11-30 | Roche Molecular Systems, Inc. | Homogeneous methods for nucleic acid amplification and detection |
US6020127A (en) | 1994-10-18 | 2000-02-01 | The University Of Ottawa | Neuronal apoptosis inhibitor protein, gene sequence and mutations causative of spinal muscular atrophy |
US6033872A (en) | 1996-12-11 | 2000-03-07 | Smithkline Beecham Corporation | Polynucleotides encoding a novel human 11cb splice variant |
US6033854A (en) | 1991-12-16 | 2000-03-07 | Biotronics Corporation | Quantitative PCR using blocking oligonucleotides |
WO2000018957A1 (fr) | 1998-09-30 | 2000-04-06 | Applied Research Systems Ars Holding N.V. | Procedes d'amplification et de sequençage d'acide nucleique |
US6100099A (en) | 1994-09-06 | 2000-08-08 | Abbott Laboratories | Test strip having a diagonal array of capture spots |
US6197508B1 (en) | 1990-09-12 | 2001-03-06 | Affymetrix, Inc. | Electrochemical denaturation and annealing of nucleic acid |
US6197574B1 (en) | 1996-11-07 | 2001-03-06 | Srl, Inc. | Bacterium detector |
US6210891B1 (en) | 1996-09-27 | 2001-04-03 | Pyrosequencing Ab | Method of sequencing DNA |
US6223128B1 (en) | 1998-06-29 | 2001-04-24 | Dnstar, Inc. | DNA sequence assembly system |
US6235502B1 (en) | 1998-09-18 | 2001-05-22 | Molecular Staging Inc. | Methods for selectively isolating DNA using rolling circle amplification |
US6235501B1 (en) | 1995-02-14 | 2001-05-22 | Bio101, Inc. | Method for isolation DNA |
US6258568B1 (en) | 1996-12-23 | 2001-07-10 | Pyrosequencing Ab | Method of sequencing DNA based on the detection of the release of pyrophosphate and enzymatic nucleotide degradation |
US20010007742A1 (en) | 1996-04-30 | 2001-07-12 | Ulf Landergren | Probing of specific nucleic acids |
US6274320B1 (en) | 1999-09-16 | 2001-08-14 | Curagen Corporation | Method of sequencing a nucleic acid |
US6306597B1 (en) | 1995-04-17 | 2001-10-23 | Lynx Therapeutics, Inc. | DNA sequencing by parallel oligonucleotide extensions |
US20010046673A1 (en) | 1999-03-16 | 2001-11-29 | Ljl Biosystems, Inc. | Methods and apparatus for detecting nucleic acid polymorphisms |
US20020001800A1 (en) | 1998-08-14 | 2002-01-03 | Stanley N. Lapidus | Diagnostic methods using serial testing of polymorphic loci |
US6360235B1 (en) | 1999-03-16 | 2002-03-19 | Webcriteria, Inc. | Objective measurement and graph theory modeling of web sites |
US6361940B1 (en) | 1996-09-24 | 2002-03-26 | Qiagen Genomics, Inc. | Compositions and methods for enhancing hybridization and priming specificity |
US20020040216A1 (en) | 1998-08-19 | 2002-04-04 | Gambro, Inc. | Cell storage maintenance and monitoring system |
US20020042052A1 (en) | 1997-08-06 | 2002-04-11 | Inge Waller Nilsen | Method of removing nucleic acid contamination in amplification reactions |
US6403320B1 (en) | 1989-06-07 | 2002-06-11 | Affymetrix, Inc. | Support bound probes and methods of analysis using the same |
US20020091666A1 (en) | 2000-07-07 | 2002-07-11 | Rice John Jeremy | Method and system for modeling biological systems |
US6462254B1 (en) | 1998-03-23 | 2002-10-08 | Valentis, Inc. | Dual-tagged proteins and their uses |
US20020164629A1 (en) | 2001-03-12 | 2002-11-07 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension |
WO2002093453A2 (fr) | 2001-05-12 | 2002-11-21 | X-Mine, Inc. | Moteur de recherche genetique sur internet |
US20020172954A1 (en) | 1999-02-26 | 2002-11-21 | Yumin Mao | Method for large scale cDNA cloning and sequencing by circulating subtraction |
US6489105B1 (en) | 1997-09-02 | 2002-12-03 | Mcgill University | Screening method for determining individuals at risk of developing diseases associated with different polymorphic forms of wildtype P53 |
US20020182609A1 (en) | 2000-08-16 | 2002-12-05 | Luminex Corporation | Microsphere based oligonucleotide ligation assays, kits, and methods of use, including high-throughput genotyping |
US20020187496A1 (en) | 2000-08-23 | 2002-12-12 | Leif Andersson | Genetic research systems |
US20020190663A1 (en) | 2000-07-17 | 2002-12-19 | Rasmussen Robert T. | Method and apparatuses for providing uniform electron beams from field emission displays |
US6558928B1 (en) | 1998-03-25 | 2003-05-06 | Ulf Landegren | Rolling circle replication of padlock probes |
US6569920B1 (en) | 2000-08-16 | 2003-05-27 | Millennium Inorganic Chemicals, Inc. | Titanium dioxide slurries having improved stability |
US6582938B1 (en) | 2001-05-11 | 2003-06-24 | Affymetrix, Inc. | Amplification of nucleic acids |
EP1321477A1 (fr) | 2001-12-22 | 2003-06-25 | Ulf Grawunder | Procédure pour la production de cellules précurseur lymphocytaires, génétiquement modifiées et leur utilisation pour la production de protéines de liaison hétérologues |
US6585938B1 (en) | 1999-08-03 | 2003-07-01 | Honda Giken Gokyo Kabushiki Kaisha | Gas concentration-detecting device for detecting concentration of gas in oil |
US6613516B1 (en) | 1999-10-30 | 2003-09-02 | Affymetrix, Inc. | Preparation of nucleic acid samples |
US20030166057A1 (en) | 1999-12-17 | 2003-09-04 | Hildebrand William H. | Method and apparatus for the production of soluble MHC antigens and uses thereof |
US20030175709A1 (en) | 2001-12-20 | 2003-09-18 | Murphy George L. | Method and system for depleting rRNA populations |
US20030177105A1 (en) | 2002-03-18 | 2003-09-18 | Weimin Xiao | Gene expression programming algorithm |
US20030203370A1 (en) | 2002-04-30 | 2003-10-30 | Zohar Yakhini | Method and system for partitioning sets of sequence groups with respect to a set of subsequence groups, useful for designing polymorphism-based typing assays |
US20030208454A1 (en) | 2000-03-16 | 2003-11-06 | Rienhoff Hugh Y. | Method and system for populating a database for further medical characterization |
US20030224384A1 (en) | 2001-11-13 | 2003-12-04 | Khalid Sayood | Divide and conquer system and method of DNA sequence assembly |
US20040029264A1 (en) | 2002-08-08 | 2004-02-12 | Robbins Neil F. | Advanced roller bottle system for cell and tissue culturing |
WO2004018497A2 (fr) | 2002-08-23 | 2004-03-04 | Solexa Limited | Nucleotides modifies |
US20040053275A1 (en) | 2000-03-09 | 2004-03-18 | Shafer David A. | Systems and methods to quantify and amplify both signaling probes for cdna chips and genes expression microarrays |
US6714874B1 (en) | 2000-03-15 | 2004-03-30 | Applera Corporation | Method and system for the assembly of a whole genome using a shot-gun data set |
US6716580B2 (en) | 1990-06-11 | 2004-04-06 | Somalogic, Inc. | Method for the automated generation of nucleic acid ligands |
US6719449B1 (en) | 1998-10-28 | 2004-04-13 | Covaris, Inc. | Apparatus and method for controlling sonic treatment |
US20040106112A1 (en) | 2000-04-11 | 2004-06-03 | Nilsson Mats Bo Johan | Nucleic acid detection medium |
US20040121373A1 (en) | 2002-09-19 | 2004-06-24 | Friedlander Ernest J. | Fragmentation of DNA |
US20040142325A1 (en) | 2001-09-14 | 2004-07-22 | Liat Mintz | Methods and systems for annotating biomolecular sequences |
US20040152108A1 (en) | 2001-03-28 | 2004-08-05 | Keith Jonathan Macgregor | Method for sequence analysis |
US20040161773A1 (en) | 2002-09-30 | 2004-08-19 | The Children's Mercy Hospital | Subtelomeric DNA probes and method of producing the same |
US20040171051A1 (en) | 2000-01-31 | 2004-09-02 | Zymogenetics, Inc. | Method and system for detecting near identities in large DNA databases |
US20040170965A1 (en) | 1998-04-24 | 2004-09-02 | Scholl David R. | Mixed cell diagnostic systems |
WO2004083819A2 (fr) | 2003-03-17 | 2004-09-30 | Trace Genetics, Inc | Marqueur moleculaire d'echantillon medico-legal |
US20040197813A1 (en) | 2001-04-20 | 2004-10-07 | Cerner Innovation, Inc. | Computer system for providing information about the risk of an atypical clinical event based upon genetic information |
US20040209299A1 (en) | 2003-03-07 | 2004-10-21 | Rubicon Genomics, Inc. | In vitro DNA immortalization and whole genome amplification using libraries generated from randomly fragmented DNA |
US6818395B1 (en) | 1999-06-28 | 2004-11-16 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences |
US6828100B1 (en) | 1999-01-22 | 2004-12-07 | Biotage Ab | Method of DNA sequencing |
US6833246B2 (en) | 1999-09-29 | 2004-12-21 | Solexa, Ltd. | Polynucleotide sequencing |
US20050003369A1 (en) | 2002-10-10 | 2005-01-06 | Affymetrix, Inc. | Method for depleting specific nucleic acids from a mixture |
WO2005003304A2 (fr) | 2003-06-20 | 2005-01-13 | Illumina, Inc. | Methodes et compositions utiles pour l'amplification et le genotypage du genome tout entier |
US20050026204A1 (en) | 1995-09-08 | 2005-02-03 | Ulf Landegren | Methods and compositions for nucleic acid targeting |
US20050032095A1 (en) | 2003-05-23 | 2005-02-10 | Wigler Michael H. | Virtual representations of nucleotide sequences |
US6858412B2 (en) | 2000-10-24 | 2005-02-22 | The Board Of Trustees Of The Leland Stanford Junior University | Direct multiplex characterization of genomic DNA |
US20050048505A1 (en) | 2003-09-03 | 2005-03-03 | Fredrick Joseph P. | Methods to detect cross-contamination between samples contacted with a multi-array substrate |
US20050112590A1 (en) | 2002-11-27 | 2005-05-26 | Boom Dirk V.D. | Fragmentation-based methods and systems for sequence variation detection and discovery |
US6913879B1 (en) | 2000-07-10 | 2005-07-05 | Telechem International Inc. | Microarray method of genotyping multiple samples at multiple LOCI |
US6927024B2 (en) | 1998-11-30 | 2005-08-09 | Genentech, Inc. | PCR assay |
EP1564306A2 (fr) | 2004-02-17 | 2005-08-17 | Affymetrix, Inc. | Procédé de fragmentation et de marquage d'ADN |
US20050186589A1 (en) | 2003-11-07 | 2005-08-25 | University Of Massachusetts | Interspersed repetitive element RNAs as substrates, inhibitors and delivery vehicles for RNAi |
US6941317B1 (en) | 1999-09-14 | 2005-09-06 | Eragen Biosciences, Inc. | Graphical user interface for display and analysis of biological sequence data |
US6948843B2 (en) | 1998-10-28 | 2005-09-27 | Covaris, Inc. | Method and apparatus for acoustically controlling liquid solutions in microfluidic devices |
US20050214811A1 (en) | 2003-12-12 | 2005-09-29 | Margulies David M | Processing and managing genetic information |
US20050244879A1 (en) | 1994-09-30 | 2005-11-03 | Promega Corporation | Multiplex amplification of short tandem repeat loci |
US20050250147A1 (en) | 2004-05-10 | 2005-11-10 | Macevicz Stephen C | Digital profiling of polynucleotide populations |
US20050272065A1 (en) | 2004-03-02 | 2005-12-08 | Orion Genomics Llc | Differential enzymatic fragmentation by whole genome amplification |
US20060008824A1 (en) | 2004-05-20 | 2006-01-12 | Leland Stanford Junior University | Methods and compositions for clonal amplification of nucleic acid |
US20060019304A1 (en) | 2004-07-26 | 2006-01-26 | Paul Hardenbol | Simultaneous analysis of multiple genomes |
US20060024681A1 (en) | 2003-10-31 | 2006-02-02 | Agencourt Bioscience Corporation | Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof |
US20060030536A1 (en) | 2004-04-09 | 2006-02-09 | University Of South Florida | Combination therapies for cancer and proliferative angiopathies |
US20060078894A1 (en) | 2004-10-12 | 2006-04-13 | Winkler Matthew M | Methods and compositions for analyzing nucleic acids |
US7034143B1 (en) | 1998-10-13 | 2006-04-25 | Brown University Research Foundation | Systems and methods for sequencing by hybridization |
US7041481B2 (en) | 2003-03-14 | 2006-05-09 | The Regents Of The University Of California | Chemical amplification based on fluid partitioning |
US7049077B2 (en) | 2003-10-29 | 2006-05-23 | Bioarray Solutions Ltd. | Multiplexed nucleic acid analysis by fragmentation of double-stranded DNA |
US7057026B2 (en) | 2001-12-04 | 2006-06-06 | Solexa Limited | Labelled nucleotides |
US7071324B2 (en) | 1998-10-13 | 2006-07-04 | Brown University Research Foundation | Systems and methods for sequencing by hybridization |
US20060149047A1 (en) | 2001-01-04 | 2006-07-06 | Nanduri Venkata B | N-carbobenzyloxy (n-cbz)-deprotecting enzyme and uses therefor |
US7074586B1 (en) | 1999-06-17 | 2006-07-11 | Source Precision Medicine, Inc. | Quantitative assay for low abundance molecules |
WO2006084132A2 (fr) | 2005-02-01 | 2006-08-10 | Agencourt Bioscience Corp. | Reactifs, methodes et bibliotheques pour sequençage fonde sur des billes |
US20060177837A1 (en) | 2004-08-13 | 2006-08-10 | Ivan Borozan | Systems and methods for identifying diagnostic indicators |
US20060183132A1 (en) | 2005-02-14 | 2006-08-17 | Perlegen Sciences, Inc. | Selection probe amplification |
US20060195269A1 (en) | 2004-02-25 | 2006-08-31 | Yeatman Timothy J | Methods and systems for predicting cancer outcome |
US20060192047A1 (en) | 2005-02-25 | 2006-08-31 | Honeywell International Inc. | Double ducted hovering air-vehicle |
US20060246500A1 (en) | 2001-09-28 | 2006-11-02 | Gen-Probe Incorporated | Polynucleotide detection method employing self-reporting dual inversion probes |
US20060263789A1 (en) | 2005-05-19 | 2006-11-23 | Robert Kincaid | Unique identifiers for indicating properties associated with entities to which they are attached, and methods for using |
US20060281098A1 (en) | 2005-06-14 | 2006-12-14 | Xin Miao | Method and kits for multiplex hybridization assays |
US20060286577A1 (en) | 2005-06-17 | 2006-12-21 | Xiyu Jia | Methods for detection of methylated DNA |
US20060292585A1 (en) | 2005-06-24 | 2006-12-28 | Affymetrix, Inc. | Analysis of methylation using nucleic acid arrays |
US20060292611A1 (en) | 2005-06-06 | 2006-12-28 | Jan Berka | Paired end sequencing |
US20070009925A1 (en) | 2005-05-05 | 2007-01-11 | Applera Corporation | Genomic dna sequencing methods and kits |
WO2007010251A2 (fr) | 2005-07-20 | 2007-01-25 | Solexa Limited | Preparation de matrices pour sequencage d'acides nucleiques |
US20070020640A1 (en) | 2005-07-21 | 2007-01-25 | Mccloskey Megan L | Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis |
US7169560B2 (en) | 2003-11-12 | 2007-01-30 | Helicos Biosciences Corporation | Short cycle methods for sequencing polynucleotides |
US20070042369A1 (en) | 2003-04-09 | 2007-02-22 | Omicia Inc. | Methods of selection, reporting and analysis of genetic markers using borad-based genetic profiling applications |
US20070092883A1 (en) | 2005-10-26 | 2007-04-26 | De Luwe Hoek Octrooien B.V. | Methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) |
US7211390B2 (en) | 1999-09-16 | 2007-05-01 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
US20070114362A1 (en) | 2005-11-23 | 2007-05-24 | Illumina, Inc. | Confocal imaging methods and apparatus |
WO2007061284A1 (fr) | 2005-11-22 | 2007-05-31 | Plant Research International B.V. | Detection multiplexe d'acides nucleiques |
US20070128624A1 (en) | 2005-11-01 | 2007-06-07 | Gormley Niall A | Method of preparing libraries of template polynucleotides |
US7232656B2 (en) | 1998-07-30 | 2007-06-19 | Solexa Ltd. | Arrayed biomolecules and their use in sequencing |
US20070162983A1 (en) | 2003-11-19 | 2007-07-12 | Evotec Neurosciences Gmbh | Diagnostic and therapeutic use of the human sgpl1 gene and protein for neurodegenerative diseases |
US20070161013A1 (en) | 2005-08-18 | 2007-07-12 | Quest Diagnostics Inc | Cystic fibrosis transmembrane conductance regulator gene mutations |
US7244559B2 (en) | 1999-09-16 | 2007-07-17 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
US20070212704A1 (en) | 2005-10-03 | 2007-09-13 | Applera Corporation | Compositions, methods, and kits for amplifying nucleic acids |
WO2007107717A1 (fr) | 2006-03-21 | 2007-09-27 | Ucl Business Plc | Biomarqueurs des troubles osseux sensibles aux biphosphonates |
US20070238122A1 (en) | 2006-04-10 | 2007-10-11 | Nancy Allbritton | Systems and methods for efficient collection of single cells and colonies of cells and fast generation of stable transfectants |
US7282337B1 (en) | 2006-04-14 | 2007-10-16 | Helicos Biosciences Corporation | Methods for increasing accuracy of nucleic acid sequencing |
US20070244675A1 (en) | 2004-04-22 | 2007-10-18 | Ramot At Tel Aviv University Ltd. | Method and Apparatus for Optimizing Multidimensional Systems |
WO2007123744A2 (fr) | 2006-03-31 | 2007-11-01 | Solexa, Inc. | Systèmes et procédés pour analyse de séquençage par synthèse |
US20070264653A1 (en) | 2006-03-10 | 2007-11-15 | Kurt Berlin | Method of identifying a biological sample for methylation analysis |
WO2007135368A2 (fr) | 2006-05-18 | 2007-11-29 | Solexa Limited | Composés de type teinte et application de leurs conjugués marqués |
US20080003142A1 (en) | 2006-05-11 | 2008-01-03 | Link Darren R | Microfluidic devices |
US7320860B2 (en) | 2001-08-03 | 2008-01-22 | Olink A.B. | Nucleic acid amplification method |
US7323305B2 (en) | 2003-01-29 | 2008-01-29 | 454 Life Sciences Corporation | Methods of amplifying and sequencing nucleic acids |
US20080076118A1 (en) | 2003-06-30 | 2008-03-27 | Nigel Tooke | Oligonucleotide Ligation Assay By Detecting Released Pyrophosphate |
US20080081330A1 (en) | 2006-09-28 | 2008-04-03 | Helicos Biosciences Corporation | Method and devices for analyzing small RNA molecules |
US20080085836A1 (en) | 2006-09-22 | 2008-04-10 | Kearns William G | Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy |
US20080090239A1 (en) | 2006-06-14 | 2008-04-17 | Daniel Shoemaker | Rare cell analysis using sample splitting and dna tags |
US20080125324A1 (en) | 2003-05-12 | 2008-05-29 | Fred Hutchinson Cancer Research Center | Methods for haplotyping genomic dna |
WO2008067551A2 (fr) | 2006-11-30 | 2008-06-05 | Navigenics Inc. | Procédés et systèmes d'analyse génétique |
US7393665B2 (en) | 2005-02-10 | 2008-07-01 | Population Genetics Technologies Ltd | Methods and compositions for tagging and identifying polynucleotides |
US20080176209A1 (en) | 2004-04-08 | 2008-07-24 | Biomatrica, Inc. | Integration of sample storage and sample management for life science |
US20080269068A1 (en) | 2007-02-06 | 2008-10-30 | President And Fellows Of Harvard College | Multiplex decoding of sequence tags in barcodes |
US20080280955A1 (en) | 2005-09-30 | 2008-11-13 | Perlegen Sciences, Inc. | Methods and compositions for screening and treatment of disorders of blood glucose regulation |
US20080293589A1 (en) | 2007-05-24 | 2008-11-27 | Affymetrix, Inc. | Multiplex locus specific amplification |
US20090009904A1 (en) | 2007-06-26 | 2009-01-08 | Kei Yasuna | Method for forming servo pattern and magnetic disk drive |
US20090019156A1 (en) | 2007-04-04 | 2009-01-15 | Zte Corporation | System and Method of Providing Services via a Peer-To-Peer-Based Next Generation Network |
US20090026082A1 (en) | 2006-12-14 | 2009-01-29 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale FET arrays |
US20090029385A1 (en) | 2007-07-26 | 2009-01-29 | Pacific Biosciences Of California, Inc. | Molecular redundant sequencing |
US20090035777A1 (en) | 2007-06-19 | 2009-02-05 | Mark Stamatios Kokoris | High throughput nucleic acid sequencing by expansion |
US20090042206A1 (en) | 2007-01-16 | 2009-02-12 | Somalogic, Inc. | Multiplexed Analyses of Test Samples |
WO2009036525A2 (fr) | 2007-09-21 | 2009-03-26 | Katholieke Universiteit Leuven | Outils et procédés pour tests génétiques ayant recours à un séquençage de dernière génération |
US7510829B2 (en) | 2001-11-19 | 2009-03-31 | Affymetrix, Inc. | Multiplex PCR |
US20090099041A1 (en) | 2006-02-07 | 2009-04-16 | President And Fellows Of Harvard College | Methods for making nucleotide probes for sequencing and synthesis |
US20090098551A1 (en) | 1998-09-25 | 2009-04-16 | Massachusetts Institute Of Technology | Methods and products related to genotyping and dna analysis |
US7523117B2 (en) | 2005-05-04 | 2009-04-21 | West Virginia University Research Corporation | Method for data clustering and classification by a graph theory model—network partition into high density subgraphs |
US20090105081A1 (en) | 2007-10-23 | 2009-04-23 | Roche Nimblegen, Inc. | Methods and systems for solution based sequence enrichment |
US20090119313A1 (en) | 2007-11-02 | 2009-05-07 | Ioactive Inc. | Determining structure of binary data using alignment algorithms |
US20090127589A1 (en) | 2006-12-14 | 2009-05-21 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale FET arrays |
US20090129647A1 (en) | 2006-03-10 | 2009-05-21 | Koninklijke Philips Electronics N.V. | Methods and systems for identification of dna patterns through spectral analysis |
US7537897B2 (en) | 2006-01-23 | 2009-05-26 | Population Genetics Technologies, Ltd. | Molecular counting |
US7537889B2 (en) | 2003-09-30 | 2009-05-26 | Life Genetics Lab, Llc. | Assay for quantitation of human DNA using Alu elements |
US7544473B2 (en) | 2006-01-23 | 2009-06-09 | Population Genetics Technologies Ltd. | Nucleic acid analysis using sequence tokens |
US20090156412A1 (en) | 2007-12-17 | 2009-06-18 | Helicos Biosciences Corporation | Surface-capture of target nucleic acids |
WO2009076238A2 (fr) | 2007-12-05 | 2009-06-18 | Complete Genomics, Inc. | Détermination efficace des bases dans les réactions de séquençage |
US20090163366A1 (en) | 2007-12-24 | 2009-06-25 | Helicos Biosciences Corporation | Two-primer sequencing for high-throughput expression analysis |
US20090181389A1 (en) | 2008-01-11 | 2009-07-16 | Signosis, Inc., A California Corporation | Quantitative measurement of nucleic acid via ligation-based linear amplification |
US20090192047A1 (en) | 2005-04-18 | 2009-07-30 | Genesis Genomics, Inc. | Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers |
US20090203014A1 (en) | 2008-01-02 | 2009-08-13 | Children's Medical Center Corporation | Method for diagnosing autism spectrum disorder |
US20090202984A1 (en) | 2008-01-17 | 2009-08-13 | Sequenom, Inc. | Single molecule nucleic acid sequence analysis processes and compositions |
US7582431B2 (en) | 1999-01-06 | 2009-09-01 | Callida Genomics, Inc. | Enhanced sequencing by hybridization using pools of probes |
US20090220955A1 (en) | 2005-09-20 | 2009-09-03 | Veridex Llc | Methods and composition to generate unique sequence dna probes labeling of dna probes and the use of these probes |
US20090226975A1 (en) | 2008-03-10 | 2009-09-10 | Illumina, Inc. | Constant cluster seeding |
US20090233814A1 (en) | 2008-02-15 | 2009-09-17 | Life Technologies Corporation | Methods and Apparatuses for Nucleic Acid Shearing by Sonication |
US7598035B2 (en) | 1998-02-23 | 2009-10-06 | Solexa, Inc. | Method and compositions for ordering restriction fragments |
US20090298064A1 (en) | 2008-05-29 | 2009-12-03 | Serafim Batzoglou | Genomic Sequencing |
US20090301382A1 (en) | 2008-06-04 | 2009-12-10 | Patel Gordhanbhai N | Monitoring System Based on Etching of Metals |
US20090318310A1 (en) | 2008-04-21 | 2009-12-24 | Softgenetics Llc | DNA Sequence Assembly Methods of Short Reads |
US7642056B2 (en) | 2007-03-14 | 2010-01-05 | Korea Institute Of Science And Technology | Method and kit for detecting a target protein using a DNA aptamer |
US20100035243A1 (en) | 2006-07-10 | 2010-02-11 | Nanosphere, Inc. | Ultra-sensitive detection of analytes |
US20100035252A1 (en) | 2008-08-08 | 2010-02-11 | Ion Torrent Systems Incorporated | Methods for sequencing individual nucleic acids under tension |
US7666593B2 (en) | 2005-08-26 | 2010-02-23 | Helicos Biosciences Corporation | Single molecule sequencing of captured nucleic acids |
WO2010024894A1 (fr) | 2008-08-26 | 2010-03-04 | 23Andme, Inc. | Données de traitement issues de puces de génotypage |
US20100063742A1 (en) | 2008-09-10 | 2010-03-11 | Hart Christopher E | Multi-scale short read assembly |
US20100069263A1 (en) | 2008-09-12 | 2010-03-18 | Washington, University Of | Sequence tag directed subassembly of short sequencing reads into long sequencing reads |
US20100076185A1 (en) | 2008-09-22 | 2010-03-25 | Nils Adey | Selective Processing of Biological Material on a Microarray Substrate |
US20100086914A1 (en) | 2008-10-03 | 2010-04-08 | Roche Molecular Systems, Inc. | High resolution, high throughput hla genotyping by clonal sequencing |
US20100086926A1 (en) | 2008-07-23 | 2010-04-08 | David Craig | Method of characterizing sequences from genetic material samples |
US20100105107A1 (en) | 1999-12-17 | 2010-04-29 | Hildebrand William H | Purification and characterization of soluble mhc proteins |
US20100137143A1 (en) | 2008-10-22 | 2010-06-03 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
US20100137163A1 (en) | 2006-01-11 | 2010-06-03 | Link Darren R | Microfluidic Devices and Methods of Use in The Formation and Control of Nanoreactors |
US20100143908A1 (en) | 2006-11-15 | 2010-06-10 | Biospherex, Llc, A Limited Liability Company | Multitag sequencing ecogenomics analysis-us |
US20100159440A1 (en) | 1998-01-30 | 2010-06-24 | Evolutionary Genomics, Inc. | METHODS FOR IDENTIFYING AGENTS THAT MODULATE p44 |
US20100196911A1 (en) | 2003-10-06 | 2010-08-05 | Cerner Innovation, Inc. | Automated identification of genetic test result duplication |
US7774962B1 (en) | 2007-04-27 | 2010-08-17 | David Ladd | Removable and reusable tags for identifying bottles, cans, and the like |
US7776616B2 (en) | 1997-09-17 | 2010-08-17 | Qiagen North American Holdings, Inc. | Apparatuses and methods for isolating nucleic acid |
US20100216151A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20100248984A1 (en) | 2004-02-13 | 2010-09-30 | Signature Genomics Laboratory | Method for precise genetic testing by genomic hybridization |
US7809509B2 (en) | 2001-05-08 | 2010-10-05 | Ip Genesis, Inc. | Comparative mapping and assembly of nucleic acid sequences |
WO2010115154A1 (fr) | 2009-04-02 | 2010-10-07 | Fluidigm Corporation | Procédé d'amplification à amorce multiple pour codage à barres d'acides nucléiques cibles |
WO2010126614A2 (fr) | 2009-04-30 | 2010-11-04 | Good Start Genetics, Inc. | Procédés et compositions d'évaluation de marqueurs génétiques |
US20100282617A1 (en) | 2006-12-14 | 2010-11-11 | Ion Torrent Systems Incorporated | Methods and apparatus for detecting molecular interactions using fet arrays |
US20100285578A1 (en) | 2009-02-03 | 2010-11-11 | Network Biosystems, Inc. | Nucleic Acid Purification |
US7835871B2 (en) | 2007-01-26 | 2010-11-16 | Illumina, Inc. | Nucleic acid sequencing system and method |
US20100304982A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems, Inc. | Scaffolded nucleic acid polymer particles and methods of making and using |
US20100301042A1 (en) | 2007-12-12 | 2010-12-02 | Sartorius Stedim Biotech Gmbh | Container with flexible walls |
US20100300559A1 (en) | 2008-10-22 | 2010-12-02 | Ion Torrent Systems, Inc. | Fluidics system for sequential delivery of reagents |
US20100301398A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
US20100300895A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems, Inc. | Apparatus and methods for performing electrochemical reactions |
US20100311061A1 (en) | 2009-04-27 | 2010-12-09 | Pacific Biosciences Of California, Inc. | Real-time sequencing methods and systems |
US7862999B2 (en) | 2007-01-17 | 2011-01-04 | Affymetrix, Inc. | Multiplex targeted amplification using flap nuclease |
US7865534B2 (en) | 2002-09-30 | 2011-01-04 | Genstruct, Inc. | System, method and apparatus for assembling and mining life science data |
US20110004413A1 (en) | 2009-04-29 | 2011-01-06 | Complete Genomics, Inc. | Method and system for calling variations in a sample polynucleotide sequence with respect to a reference polynucleotide sequence |
WO2011006020A1 (fr) | 2009-07-10 | 2011-01-13 | Qualcomm Incorporated | Procédés et appareils de détection d'identificateurs |
US20110015863A1 (en) | 2006-03-23 | 2011-01-20 | The Regents Of The University Of California | Method for identification and sequencing of proteins |
US20110021366A1 (en) | 2006-05-03 | 2011-01-27 | James Chinitz | Evaluating genetic disorders |
US7883849B1 (en) | 2004-05-18 | 2011-02-08 | Olink Ab | Method for amplifying specific nucleic acids in parallel |
US20110034342A1 (en) | 2008-02-12 | 2011-02-10 | Codexis, Inc. | Method of generating an optimized, diverse population of variants |
US20110092375A1 (en) | 2009-10-19 | 2011-04-21 | University Of Massachusetts Medical School | Deducing Exon Connectivity by RNA-Templated DNA Ligation/Sequencing |
US20110098193A1 (en) | 2009-10-22 | 2011-04-28 | Kingsmore Stephen F | Methods and Systems for Medical Sequencing Analysis |
US20110117544A1 (en) | 2005-03-01 | 2011-05-19 | Lingvitae As | Method for producing an amplified polynucleotide sequence |
WO2011066476A1 (fr) | 2009-11-25 | 2011-06-03 | Quantalife, Inc. | Procédés et compositions destinés à détecter un matériel génétique |
WO2011067378A1 (fr) | 2009-12-03 | 2011-06-09 | Olink Genomics Ab | Procédé pour l'amplification d'un acide nucléique cible |
US7960120B2 (en) | 2006-10-06 | 2011-06-14 | Illumina Cambridge Ltd. | Method for pair-wise sequencing a plurality of double stranded target polynucleotides |
US20110166029A1 (en) | 2009-09-08 | 2011-07-07 | David Michael Margulies | Compositions And Methods For Diagnosing Autism Spectrum Disorders |
US7985716B2 (en) | 2006-09-22 | 2011-07-26 | Uchicago Argonne, Llc | Nucleic acid sample purification and enrichment with a thermo-affinity microfluidic sub-circuit |
US20110224105A1 (en) | 2009-08-12 | 2011-09-15 | Nugen Technologies, Inc. | Methods, compositions, and kits for generating nucleic acid products substantially free of template nucleic acid |
US8024128B2 (en) | 2004-09-07 | 2011-09-20 | Gene Security Network, Inc. | System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data |
US20110230365A1 (en) | 2010-03-22 | 2011-09-22 | Elizabeth Rohlfs | Mutations Associated With Cystic Fibrosis |
US20110257889A1 (en) | 2010-02-24 | 2011-10-20 | Pacific Biosciences Of California, Inc. | Sequence assembly and consensus sequence determination |
US20110288780A1 (en) | 2010-05-18 | 2011-11-24 | Gene Security Network Inc. | Methods for Non-Invasive Prenatal Ploidy Calling |
US20110301042A1 (en) | 2008-11-11 | 2011-12-08 | Helicos Biosciences Corporation | Methods of sample encoding for multiplex analysis of samples by single molecule sequencing |
WO2011155833A2 (fr) | 2010-06-09 | 2011-12-15 | Keygene N.V. | Code-barres de séquences combinatoires pour criblage à haut débit |
WO2012006291A2 (fr) | 2010-07-06 | 2012-01-12 | Life Technologies Corporation | Systèmes et procédés pour détecter une variation de nombre de copies |
US20120015050A1 (en) | 2010-06-18 | 2012-01-19 | Myriad Genetics, Incorporated | Methods and materials for assessing loss of heterozygosity |
US8114027B2 (en) | 2003-04-01 | 2012-02-14 | Copan Innovation Limited | Swab for collecting biological specimens |
US20120059594A1 (en) | 2010-08-02 | 2012-03-08 | Population Diagnostics, Inc. | Compositions and methods for discovery of causative mutations in genetic disorders |
US20120074925A1 (en) | 2010-09-27 | 2012-03-29 | Nabsys, Inc. | Assay Methods Using Nicking Endonucleases |
WO2012040387A1 (fr) | 2010-09-24 | 2012-03-29 | The Board Of Trustees Of The Leland Stanford Junior University | Capture directe, amplification et séquençage d'adn cible à l'aide d'amorces immobilisées |
EP2437191A2 (fr) | 2005-11-26 | 2012-04-04 | Gene Security Network LLC | Système et procédé pour nettoyer des données génétiques bruyantes et au moyen de phénotypes génétiques et de données cliniques pour faire des prédictions |
US20120079980A1 (en) | 2010-09-30 | 2012-04-05 | Temptime Corporation | Color-changing emulsions for freeze indicators |
WO2012051208A2 (fr) | 2010-10-11 | 2012-04-19 | Complete Genomics, Inc. | Identification de réarrangements dans un génome séquencé |
US8165821B2 (en) | 2007-02-05 | 2012-04-24 | Applied Biosystems, Llc | System and methods for indel identification using short read sequencing |
US20120115736A1 (en) | 2008-09-19 | 2012-05-10 | Pacific Biosciences Of California, Inc. | Nucleic acid sequence analysis |
US8209130B1 (en) | 2012-04-04 | 2012-06-26 | Good Start Genetics, Inc. | Sequence assembly |
WO2012087736A1 (fr) | 2010-12-23 | 2012-06-28 | Good Start Genetics, Inc. | Méthodes de conservation de l'intégrité et d'identification d'un modèle d'acide nucléique dans une réaction de séquençage multiplexée |
US20120165202A1 (en) | 2009-04-30 | 2012-06-28 | Good Start Genetics, Inc. | Methods and compositions for evaluating genetic markers |
US20120179384A1 (en) | 2009-09-10 | 2012-07-12 | Masayuki Kuramitsu | Method for analyzing nucleic acid mutation using array comparative genomic hybridization technique |
WO2012109500A2 (fr) | 2011-02-09 | 2012-08-16 | Bio-Rad Laboratories, Inc. | Analyse d'acides nucléiques |
US20120216151A1 (en) | 2011-02-22 | 2012-08-23 | Cisco Technology, Inc. | Using Gestures to Schedule and Manage Meetings |
US20120214678A1 (en) | 2010-01-19 | 2012-08-23 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acids in maternal samples |
US20120236861A1 (en) | 2011-03-09 | 2012-09-20 | Annai Systems, Inc. | Biological data networks and methods therefor |
US20120245041A1 (en) | 2009-11-04 | 2012-09-27 | Sydney Brenner | Base-by-base mutation screening |
WO2012134884A1 (fr) | 2011-03-31 | 2012-10-04 | Good Start Genetics, Inc. | Identification d'une matrice d'acides nucléiques dans une réaction de séquençage multiplex |
US20120252020A1 (en) | 2007-08-17 | 2012-10-04 | Predictive Biosciences, Inc. | Screening Assay for Bladder Cancer |
US20120252684A1 (en) | 1999-10-12 | 2012-10-04 | Codexis Mayflower Holdings, Llc | Methods of populating data structures for use in evolutionary simulations |
US8283116B1 (en) | 2007-06-22 | 2012-10-09 | Ptc Therapeutics, Inc. | Methods of screening for compounds for treating spinal muscular atrophy using SMN mRNA translation regulation |
US20120258461A1 (en) | 2011-04-05 | 2012-10-11 | Weisbart Richard H | Methods for determining and inhibiting rheumatoid arthritis associated with the braf oncogene in a subject |
US20120270212A1 (en) | 2010-05-18 | 2012-10-25 | Gene Security Network Inc. | Methods for Non-Invasive Prenatal Ploidy Calling |
US20120270739A1 (en) | 2010-01-19 | 2012-10-25 | Verinata Health, Inc. | Method for sample analysis of aneuploidies in maternal samples |
WO2012149171A1 (fr) | 2011-04-27 | 2012-11-01 | The Regents Of The University Of California | Conception de sondes cadenas pour effectuer un séquençage génomique ciblé |
WO2012170725A2 (fr) | 2011-06-07 | 2012-12-13 | Mount Sinai School Of Medicine | Matériels et méthode pour l'identification de vecteurs d'amyotrophie spinale |
WO2013058907A1 (fr) | 2011-10-17 | 2013-04-25 | Good Start Genetics, Inc. | Méthodes d'identification de mutations associées à des maladies |
US20130130921A1 (en) | 2011-05-31 | 2013-05-23 | Berry Genomics Co., Ltd. | Kit, a Device and a Method for Detecting Copy Number of Fetal Chromosomes or Tumor Cell Chromosomes |
US20130129755A1 (en) | 2010-03-25 | 2013-05-23 | Agency For Science, Technology And Research | Method of producing recombinant proteins with mannose-terminated n-glycans |
US8463895B2 (en) | 2007-11-29 | 2013-06-11 | International Business Machines Corporation | System and computer program product to predict edges in a non-cumulative graph |
US8462161B1 (en) | 2009-01-20 | 2013-06-11 | Kount Inc. | System and method for fast component enumeration in graphs with implicit edges |
US8474228B2 (en) | 2009-12-08 | 2013-07-02 | Life Technologies Corporation | Packaging systems and methods for transporting vials |
US20130178378A1 (en) | 2011-06-09 | 2013-07-11 | Andrew C. Hatch | Multiplex digital pcr |
US20130183672A1 (en) | 2010-07-09 | 2013-07-18 | Cergentis B.V. | 3-d genomic region of interest sequencing strategies |
US8496166B2 (en) | 2011-08-23 | 2013-07-30 | Eagile Inc. | System for associating RFID tag with UPC code, and validating associative encoding of same |
US20130222388A1 (en) | 2012-02-24 | 2013-08-29 | Callum David McDonald | Method of graph processing |
US8529744B2 (en) | 2004-02-02 | 2013-09-10 | Boreal Genomics Corp. | Enrichment of nucleic acid targets |
WO2013148496A1 (fr) | 2012-03-26 | 2013-10-03 | The Johns Hopkins University | Détection rapide d'aneuploïdie |
US20130268474A1 (en) | 2012-04-09 | 2013-10-10 | Marcia M. Nizzari | Variant database |
US20130274146A1 (en) | 2012-04-16 | 2013-10-17 | Good Start Genetics, Inc. | Capture reactions |
US20130275103A1 (en) | 2011-01-25 | 2013-10-17 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
US20130288242A1 (en) | 2006-06-14 | 2013-10-31 | Roland Stoughton | Determination of fetal aneuploidy by quantification of genomic dna from mixed samples |
WO2013177086A1 (fr) | 2012-05-21 | 2013-11-28 | Sequenom, Inc. | Procédés et méthodes d'évaluation non invasive de variations génétiques |
US20130323730A1 (en) | 2012-06-05 | 2013-12-05 | Agilent Technologies, Inc. | Method for determining ploidy of a cell |
US20130332081A1 (en) | 2010-09-09 | 2013-12-12 | Omicia Inc | Variant annotation, analysis and selection tool |
US20130337447A1 (en) | 2009-04-30 | 2013-12-19 | Good Start Genetics, Inc. | Methods and compositions for evaluating genetic markers |
US20130344096A1 (en) | 2012-02-16 | 2013-12-26 | Pangu Biopharma Limited | Histidyl-trna synthetases for treating autoimmune and inflammatory diseases |
WO2013191775A2 (fr) | 2012-06-18 | 2013-12-27 | Nugen Technologies, Inc. | Compositions et procédés pour la sélection négative de séquences d'acide nucléique indésirable |
WO2014052909A2 (fr) | 2012-09-27 | 2014-04-03 | The Children's Mercy Hospital | Système d'analyse du génome et diagnostic de maladie génétique |
US20140129201A1 (en) | 2012-11-07 | 2014-05-08 | Good Start Genetics, Inc. | Validation of genetic tests |
US20140136120A1 (en) | 2007-11-21 | 2014-05-15 | Cosmosid Inc. | Direct identification and measurement of relative populations of microorganisms with direct dna sequencing and probabilistic methods |
US8778609B1 (en) | 2013-03-14 | 2014-07-15 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US20140206552A1 (en) | 2010-05-18 | 2014-07-24 | Natera, Inc. | Methods for preimplantation genetic diagnosis by sequencing |
US20140222349A1 (en) | 2013-01-16 | 2014-08-07 | Assurerx Health, Inc. | System and Methods for Pharmacogenomic Classification |
US20140228226A1 (en) | 2011-09-21 | 2014-08-14 | Bgi Health Service Co., Ltd. | Method and system for determining chromosome aneuploidy of single cell |
US8847799B1 (en) | 2013-06-03 | 2014-09-30 | Good Start Genetics, Inc. | Methods and systems for storing sequence read data |
US20140318274A1 (en) | 2011-06-09 | 2014-10-30 | Agilent Technologies, Inc. | Injection needle cartridge with integrated sealing force generator |
US20140342354A1 (en) | 2013-03-12 | 2014-11-20 | Counsyl, Inc. | Systems and methods for prenatal genetic analysis |
US20140361022A1 (en) | 2013-06-11 | 2014-12-11 | J.G. Finneran Associates, Inc. | Rotation-limiting well plate assembly |
US20150056613A1 (en) | 2013-08-21 | 2015-02-26 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
US20150111208A1 (en) | 2013-10-18 | 2015-04-23 | Good Start Genetics, Inc. | Methods for assessing a genomic region of a subject |
US20150178445A1 (en) | 2012-08-28 | 2015-06-25 | The Broad Institute, Inc. | Detecting variants in sequencing data and benchmarking |
US9074244B2 (en) | 2008-03-11 | 2015-07-07 | Affymetrix, Inc. | Array-based translocation and rearrangement assays |
WO2015119941A2 (fr) | 2014-02-04 | 2015-08-13 | Igenomx International Genomics Corporation | Fractionnement du génome |
US20150258170A1 (en) | 2012-10-10 | 2015-09-17 | The Trustees Of Columbia University In The City Of New York | Diagnosis and Treatment of SMA and SMN Deficiency |
US20160034638A1 (en) | 2013-03-14 | 2016-02-04 | University Of Rochester | System and Method for Detecting Population Variation from Nucleic Acid Sequencing Data |
US20160068889A1 (en) | 2014-09-10 | 2016-03-10 | Good Start Genetics, Inc. | Methods for selectively suppressing non-target sequences |
US20160210486A1 (en) | 2015-01-15 | 2016-07-21 | Good Start Genetics, Inc. | Devices and systems for barcoding individual wells and vessels |
US20160251719A1 (en) | 2013-10-18 | 2016-09-01 | Good Start Genetics, Inc. | Methods for copy number determination |
US9567639B2 (en) | 2010-08-06 | 2017-02-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US20170044610A1 (en) | 2013-01-23 | 2017-02-16 | Reproductive Genetics and Technology Solutions,LLC | Compositions and methods for genetic analysis of embryos |
US20170129964A1 (en) | 2000-10-18 | 2017-05-11 | Sloan-Kettering Institute For Cancer Research | Uses of monoclonal antibody 8h9 |
US20170183731A1 (en) | 2015-07-29 | 2017-06-29 | Tobias Mann | Nucleic acids and methods for detecting chromosomal abnormalities |
US10066259B2 (en) | 2015-01-06 | 2018-09-04 | Good Start Genetics, Inc. | Screening for structural variants |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US8275554B2 (en) * | 2002-12-20 | 2012-09-25 | Caliper Life Sciences, Inc. | System for differentiating the lengths of nucleic acids of interest in a sample |
-
2010
- 2010-04-30 JP JP2012508490A patent/JP2012525147A/ja active Pending
- 2010-04-30 WO PCT/US2010/001293 patent/WO2010126614A2/fr active Application Filing
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-
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- 2011-10-30 IL IL216054A patent/IL216054A/en active IP Right Grant
-
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- 2015-08-24 JP JP2015164811A patent/JP2016000046A/ja active Pending
-
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- 2020-11-19 US US16/952,764 patent/US11840730B1/en active Active
Patent Citations (406)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5242794A (en) | 1984-12-13 | 1993-09-07 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
US5674713A (en) | 1985-12-02 | 1997-10-07 | The Regents Of The University Of California | DNA sequences encoding coleoptera luciferase activity |
US5700673A (en) | 1985-12-02 | 1997-12-23 | The Regents Of The University Of California | Recombinantly produced Coleoptera luciferase and fusion proteins thereof |
US5583024A (en) | 1985-12-02 | 1996-12-10 | The Regents Of The University Of California | Recombinant expression of Coleoptera luciferase |
US4683195A (en) | 1986-01-30 | 1987-07-28 | Cetus Corporation | Process for amplifying, detecting, and/or-cloning nucleic acid sequences |
US4683195B1 (fr) | 1986-01-30 | 1990-11-27 | Cetus Corp | |
US4988617A (en) | 1988-03-25 | 1991-01-29 | California Institute Of Technology | Method of detecting a nucleotide change in nucleic acids |
US5234809A (en) | 1989-03-23 | 1993-08-10 | Akzo N.V. | Process for isolating nucleic acid |
US6403320B1 (en) | 1989-06-07 | 2002-06-11 | Affymetrix, Inc. | Support bound probes and methods of analysis using the same |
US5494810A (en) | 1990-05-03 | 1996-02-27 | Cornell Research Foundation, Inc. | Thermostable ligase-mediated DNA amplifications system for the detection of genetic disease |
US5060980A (en) | 1990-05-30 | 1991-10-29 | Xerox Corporation | Form utilizing encoded indications for form field processing |
US5486686A (en) | 1990-05-30 | 1996-01-23 | Xerox Corporation | Hardcopy lossless data storage and communications for electronic document processing systems |
US6716580B2 (en) | 1990-06-11 | 2004-04-06 | Somalogic, Inc. | Method for the automated generation of nucleic acid ligands |
US5210015A (en) | 1990-08-06 | 1993-05-11 | Hoffman-La Roche Inc. | Homogeneous assay system using the nuclease activity of a nucleic acid polymerase |
US6197508B1 (en) | 1990-09-12 | 2001-03-06 | Affymetrix, Inc. | Electrochemical denaturation and annealing of nucleic acid |
US5491224A (en) | 1990-09-20 | 1996-02-13 | Bittner; Michael L. | Direct label transaminated DNA probe compositions for chromosome identification and methods for their manufacture |
US5994056A (en) | 1991-05-02 | 1999-11-30 | Roche Molecular Systems, Inc. | Homogeneous methods for nucleic acid amplification and detection |
US6171785B1 (en) | 1991-05-02 | 2001-01-09 | Roche Molecular Systems, Inc. | Methods and devices for hemogeneous nucleic acid amplification and detector |
US6033854A (en) | 1991-12-16 | 2000-03-07 | Biotronics Corporation | Quantitative PCR using blocking oligonucleotides |
US5348853A (en) | 1991-12-16 | 1994-09-20 | Biotronics Corporation | Method for reducing non-specific priming in DNA amplification |
US5567583A (en) | 1991-12-16 | 1996-10-22 | Biotronics Corporation | Methods for reducing non-specific priming in DNA detection |
US5434049A (en) | 1992-02-28 | 1995-07-18 | Hitachi, Ltd. | Separation of polynucleotides using supports having a plurality of electrode-containing cells |
US5869252A (en) | 1992-03-31 | 1999-02-09 | Abbott Laboratories | Method of multiplex ligase chain reaction |
WO1995011995A1 (fr) | 1993-10-26 | 1995-05-04 | Affymax Technologies N.V. | Reseaux de sondes d'acide nucleique sur des microplaquettes biologiques |
US5459307A (en) | 1993-11-30 | 1995-10-17 | Xerox Corporation | System for storage and retrieval of digitally encoded information on a medium |
US5871921A (en) | 1994-02-16 | 1999-02-16 | Landegren; Ulf | Circularizing nucleic acid probe able to interlock with a target sequence through catenation |
US6235472B1 (en) | 1994-02-16 | 2001-05-22 | Ulf Landegren | Nucleic acid detecting reagent |
US5888788A (en) | 1994-05-18 | 1999-03-30 | Union Nationale Des Groupements De Distillateurs D'alcool (Ungda) | Use of ionophoretic polyether antibiotics for controlling bacterial growth in alcoholic fermentation |
US5942391A (en) | 1994-06-22 | 1999-08-24 | Mount Sinai School Of Medicine | Nucleic acid amplification method: ramification-extension amplification method (RAM) |
US6100099A (en) | 1994-09-06 | 2000-08-08 | Abbott Laboratories | Test strip having a diagonal array of capture spots |
US20050244879A1 (en) | 1994-09-30 | 2005-11-03 | Promega Corporation | Multiplex amplification of short tandem repeat loci |
US6150516A (en) | 1994-10-13 | 2000-11-21 | Lynx Therapeutics, Inc. | Kits for sorting and identifying polynucleotides |
US6138077A (en) | 1994-10-13 | 2000-10-24 | Lynx Therapeutics, Inc. | Method, apparatus and computer program product for determining a set of non-hybridizing oligonucleotides |
US5863722A (en) | 1994-10-13 | 1999-01-26 | Lynx Therapeutics, Inc. | Method of sorting polynucleotides |
USRE39793E1 (en) | 1994-10-13 | 2007-08-21 | Solexa, Inc. | Compositions for sorting polynucleotides |
US5604097A (en) | 1994-10-13 | 1997-02-18 | Spectragen, Inc. | Methods for sorting polynucleotides using oligonucleotide tags |
US5846719A (en) | 1994-10-13 | 1998-12-08 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US6235475B1 (en) | 1994-10-13 | 2001-05-22 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US6352828B1 (en) | 1994-10-13 | 2002-03-05 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US6172218B1 (en) | 1994-10-13 | 2001-01-09 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US6172214B1 (en) | 1994-10-13 | 2001-01-09 | Lynx Therapeutics, Inc. | Oligonucleotide tags for sorting and identification |
US5695934A (en) | 1994-10-13 | 1997-12-09 | Lynx Therapeutics, Inc. | Massively parallel sequencing of sorted polynucleotides |
US6020127A (en) | 1994-10-18 | 2000-02-01 | The University Of Ottawa | Neuronal apoptosis inhibitor protein, gene sequence and mutations causative of spinal muscular atrophy |
WO1996019586A1 (fr) | 1994-12-22 | 1996-06-27 | Visible Genetics Inc. | Procede et composition destines a l'identification interne d'echantillons |
US6235501B1 (en) | 1995-02-14 | 2001-05-22 | Bio101, Inc. | Method for isolation DNA |
US5866337A (en) | 1995-03-24 | 1999-02-02 | The Trustees Of Columbia University In The City Of New York | Method to detect mutations in a nucleic acid using a hybridization-ligation procedure |
US6306597B1 (en) | 1995-04-17 | 2001-10-23 | Lynx Therapeutics, Inc. | DNA sequencing by parallel oligonucleotide extensions |
US5701256A (en) | 1995-05-31 | 1997-12-23 | Cold Spring Harbor Laboratory | Method and apparatus for biological sequence comparison |
US5636400A (en) | 1995-08-07 | 1997-06-10 | Young; Keenan L. | Automatic infant bottle cleaner |
US20050026204A1 (en) | 1995-09-08 | 2005-02-03 | Ulf Landegren | Methods and compositions for nucleic acid targeting |
US20010007742A1 (en) | 1996-04-30 | 2001-07-12 | Ulf Landergren | Probing of specific nucleic acids |
US7351528B2 (en) | 1996-04-30 | 2008-04-01 | Olink Ab | Probing of specific nucleic acids |
US5830064A (en) | 1996-06-21 | 1998-11-03 | Pear, Inc. | Apparatus and method for distinguishing events which collectively exceed chance expectations and thereby controlling an output |
US6361940B1 (en) | 1996-09-24 | 2002-03-26 | Qiagen Genomics, Inc. | Compositions and methods for enhancing hybridization and priming specificity |
US6210891B1 (en) | 1996-09-27 | 2001-04-03 | Pyrosequencing Ab | Method of sequencing DNA |
WO1998014275A1 (fr) | 1996-10-04 | 1998-04-09 | Intronn Llc | Dispositifs et procedes servant a prelever des specimens au moyen de marqueurs et utilisation de ces marqueurs pour determiner la valeur d'un specimen, l'evaluer ou le certifier en laboratoire |
US6197574B1 (en) | 1996-11-07 | 2001-03-06 | Srl, Inc. | Bacterium detector |
US6033872A (en) | 1996-12-11 | 2000-03-07 | Smithkline Beecham Corporation | Polynucleotides encoding a novel human 11cb splice variant |
US6258568B1 (en) | 1996-12-23 | 2001-07-10 | Pyrosequencing Ab | Method of sequencing DNA based on the detection of the release of pyrophosphate and enzymatic nucleotide degradation |
US20050100900A1 (en) | 1997-04-01 | 2005-05-12 | Manteia Sa | Method of nucleic acid amplification |
WO1998044151A1 (fr) | 1997-04-01 | 1998-10-08 | Glaxo Group Limited | Methode d'amplification d'acide nucleique |
US20020042052A1 (en) | 1997-08-06 | 2002-04-11 | Inge Waller Nilsen | Method of removing nucleic acid contamination in amplification reactions |
US6489105B1 (en) | 1997-09-02 | 2002-12-03 | Mcgill University | Screening method for determining individuals at risk of developing diseases associated with different polymorphic forms of wildtype P53 |
US5869717A (en) | 1997-09-17 | 1999-02-09 | Uop Llc | Process for inhibiting the polymerization of vinyl aromatics |
US7776616B2 (en) | 1997-09-17 | 2010-08-17 | Qiagen North American Holdings, Inc. | Apparatuses and methods for isolating nucleic acid |
US5993611A (en) | 1997-09-24 | 1999-11-30 | Sarnoff Corporation | Capacitive denaturation of nucleic acid |
US20100159440A1 (en) | 1998-01-30 | 2010-06-24 | Evolutionary Genomics, Inc. | METHODS FOR IDENTIFYING AGENTS THAT MODULATE p44 |
US7598035B2 (en) | 1998-02-23 | 2009-10-06 | Solexa, Inc. | Method and compositions for ordering restriction fragments |
US6462254B1 (en) | 1998-03-23 | 2002-10-08 | Valentis, Inc. | Dual-tagged proteins and their uses |
US6558928B1 (en) | 1998-03-25 | 2003-05-06 | Ulf Landegren | Rolling circle replication of padlock probes |
US7074564B2 (en) | 1998-03-25 | 2006-07-11 | Ulf Landegren | Rolling circle replication of padlock probes |
US20040170965A1 (en) | 1998-04-24 | 2004-09-02 | Scholl David R. | Mixed cell diagnostic systems |
US5971921A (en) | 1998-06-11 | 1999-10-26 | Advanced Monitoring Devices, Inc. | Medical alarm system and methods |
US6223128B1 (en) | 1998-06-29 | 2001-04-24 | Dnstar, Inc. | DNA sequence assembly system |
US7232656B2 (en) | 1998-07-30 | 2007-06-19 | Solexa Ltd. | Arrayed biomolecules and their use in sequencing |
US20020001800A1 (en) | 1998-08-14 | 2002-01-03 | Stanley N. Lapidus | Diagnostic methods using serial testing of polymorphic loci |
US20020040216A1 (en) | 1998-08-19 | 2002-04-04 | Gambro, Inc. | Cell storage maintenance and monitoring system |
US6235502B1 (en) | 1998-09-18 | 2001-05-22 | Molecular Staging Inc. | Methods for selectively isolating DNA using rolling circle amplification |
US20090098551A1 (en) | 1998-09-25 | 2009-04-16 | Massachusetts Institute Of Technology | Methods and products related to genotyping and dna analysis |
WO2000018957A1 (fr) | 1998-09-30 | 2000-04-06 | Applied Research Systems Ars Holding N.V. | Procedes d'amplification et de sequençage d'acide nucleique |
US7115400B1 (en) | 1998-09-30 | 2006-10-03 | Solexa Ltd. | Methods of nucleic acid amplification and sequencing |
US7034143B1 (en) | 1998-10-13 | 2006-04-25 | Brown University Research Foundation | Systems and methods for sequencing by hybridization |
US7071324B2 (en) | 1998-10-13 | 2006-07-04 | Brown University Research Foundation | Systems and methods for sequencing by hybridization |
US6948843B2 (en) | 1998-10-28 | 2005-09-27 | Covaris, Inc. | Method and apparatus for acoustically controlling liquid solutions in microfluidic devices |
US6719449B1 (en) | 1998-10-28 | 2004-04-13 | Covaris, Inc. | Apparatus and method for controlling sonic treatment |
US6927024B2 (en) | 1998-11-30 | 2005-08-09 | Genentech, Inc. | PCR assay |
US7582431B2 (en) | 1999-01-06 | 2009-09-01 | Callida Genomics, Inc. | Enhanced sequencing by hybridization using pools of probes |
US7629151B2 (en) | 1999-01-19 | 2009-12-08 | Somalogic, Inc. | Method and apparatus for the automated generation of nucleic acid ligands |
US6828100B1 (en) | 1999-01-22 | 2004-12-07 | Biotage Ab | Method of DNA sequencing |
US20020172954A1 (en) | 1999-02-26 | 2002-11-21 | Yumin Mao | Method for large scale cDNA cloning and sequencing by circulating subtraction |
US20010046673A1 (en) | 1999-03-16 | 2001-11-29 | Ljl Biosystems, Inc. | Methods and apparatus for detecting nucleic acid polymorphisms |
US6360235B1 (en) | 1999-03-16 | 2002-03-19 | Webcriteria, Inc. | Objective measurement and graph theory modeling of web sites |
US7074586B1 (en) | 1999-06-17 | 2006-07-11 | Source Precision Medicine, Inc. | Quantitative assay for low abundance molecules |
US6911345B2 (en) | 1999-06-28 | 2005-06-28 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences |
US6818395B1 (en) | 1999-06-28 | 2004-11-16 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences |
US6585938B1 (en) | 1999-08-03 | 2003-07-01 | Honda Giken Gokyo Kabushiki Kaisha | Gas concentration-detecting device for detecting concentration of gas in oil |
US6941317B1 (en) | 1999-09-14 | 2005-09-06 | Eragen Biosciences, Inc. | Graphical user interface for display and analysis of biological sequence data |
US7211390B2 (en) | 1999-09-16 | 2007-05-01 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
US7244559B2 (en) | 1999-09-16 | 2007-07-17 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
US6274320B1 (en) | 1999-09-16 | 2001-08-14 | Curagen Corporation | Method of sequencing a nucleic acid |
US7335762B2 (en) | 1999-09-16 | 2008-02-26 | 454 Life Sciences Corporation | Apparatus and method for sequencing a nucleic acid |
US7264929B2 (en) | 1999-09-16 | 2007-09-04 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
US6833246B2 (en) | 1999-09-29 | 2004-12-21 | Solexa, Ltd. | Polynucleotide sequencing |
US20120252684A1 (en) | 1999-10-12 | 2012-10-04 | Codexis Mayflower Holdings, Llc | Methods of populating data structures for use in evolutionary simulations |
US6613516B1 (en) | 1999-10-30 | 2003-09-02 | Affymetrix, Inc. | Preparation of nucleic acid samples |
US20100105107A1 (en) | 1999-12-17 | 2010-04-29 | Hildebrand William H | Purification and characterization of soluble mhc proteins |
US20030166057A1 (en) | 1999-12-17 | 2003-09-04 | Hildebrand William H. | Method and apparatus for the production of soluble MHC antigens and uses thereof |
US20040171051A1 (en) | 2000-01-31 | 2004-09-02 | Zymogenetics, Inc. | Method and system for detecting near identities in large DNA databases |
US20040053275A1 (en) | 2000-03-09 | 2004-03-18 | Shafer David A. | Systems and methods to quantify and amplify both signaling probes for cdna chips and genes expression microarrays |
US6714874B1 (en) | 2000-03-15 | 2004-03-30 | Applera Corporation | Method and system for the assembly of a whole genome using a shot-gun data set |
US20030208454A1 (en) | 2000-03-16 | 2003-11-06 | Rienhoff Hugh Y. | Method and system for populating a database for further medical characterization |
US20040106112A1 (en) | 2000-04-11 | 2004-06-03 | Nilsson Mats Bo Johan | Nucleic acid detection medium |
US20070225487A1 (en) | 2000-04-11 | 2007-09-27 | Biocyclica Ab | Nucleic acid detection medium |
US20020091666A1 (en) | 2000-07-07 | 2002-07-11 | Rice John Jeremy | Method and system for modeling biological systems |
US6913879B1 (en) | 2000-07-10 | 2005-07-05 | Telechem International Inc. | Microarray method of genotyping multiple samples at multiple LOCI |
US20020190663A1 (en) | 2000-07-17 | 2002-12-19 | Rasmussen Robert T. | Method and apparatuses for providing uniform electron beams from field emission displays |
US20020182609A1 (en) | 2000-08-16 | 2002-12-05 | Luminex Corporation | Microsphere based oligonucleotide ligation assays, kits, and methods of use, including high-throughput genotyping |
US6569920B1 (en) | 2000-08-16 | 2003-05-27 | Millennium Inorganic Chemicals, Inc. | Titanium dioxide slurries having improved stability |
US20020187496A1 (en) | 2000-08-23 | 2002-12-12 | Leif Andersson | Genetic research systems |
US20170129964A1 (en) | 2000-10-18 | 2017-05-11 | Sloan-Kettering Institute For Cancer Research | Uses of monoclonal antibody 8h9 |
US6858412B2 (en) | 2000-10-24 | 2005-02-22 | The Board Of Trustees Of The Leland Stanford Junior University | Direct multiplex characterization of genomic DNA |
US7993880B2 (en) | 2000-10-24 | 2011-08-09 | The Board Of Trustees Of The Leland Stanford Junior University | Precircle probe nucleic acid amplification methods |
US20100330619A1 (en) | 2000-10-24 | 2010-12-30 | Willis Thomas D | Direct multiplex characterization of genomic dna |
US7700323B2 (en) | 2000-10-24 | 2010-04-20 | The Board Of Trustees Of The Leland Stanford Junior University | Method for detecting and amplifying target DNA |
US20060149047A1 (en) | 2001-01-04 | 2006-07-06 | Nanduri Venkata B | N-carbobenzyloxy (n-cbz)-deprotecting enzyme and uses therefor |
US20020164629A1 (en) | 2001-03-12 | 2002-11-07 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension |
US7297518B2 (en) | 2001-03-12 | 2007-11-20 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension |
US20040152108A1 (en) | 2001-03-28 | 2004-08-05 | Keith Jonathan Macgregor | Method for sequence analysis |
US20040197813A1 (en) | 2001-04-20 | 2004-10-07 | Cerner Innovation, Inc. | Computer system for providing information about the risk of an atypical clinical event based upon genetic information |
US7809509B2 (en) | 2001-05-08 | 2010-10-05 | Ip Genesis, Inc. | Comparative mapping and assembly of nucleic acid sequences |
US6582938B1 (en) | 2001-05-11 | 2003-06-24 | Affymetrix, Inc. | Amplification of nucleic acids |
WO2002093453A2 (fr) | 2001-05-12 | 2002-11-21 | X-Mine, Inc. | Moteur de recherche genetique sur internet |
US7320860B2 (en) | 2001-08-03 | 2008-01-22 | Olink A.B. | Nucleic acid amplification method |
US7790388B2 (en) | 2001-08-03 | 2010-09-07 | Olink Ab | Nucleic acid amplification method |
US20040142325A1 (en) | 2001-09-14 | 2004-07-22 | Liat Mintz | Methods and systems for annotating biomolecular sequences |
US20060246500A1 (en) | 2001-09-28 | 2006-11-02 | Gen-Probe Incorporated | Polynucleotide detection method employing self-reporting dual inversion probes |
US20030224384A1 (en) | 2001-11-13 | 2003-12-04 | Khalid Sayood | Divide and conquer system and method of DNA sequence assembly |
US7510829B2 (en) | 2001-11-19 | 2009-03-31 | Affymetrix, Inc. | Multiplex PCR |
US7057026B2 (en) | 2001-12-04 | 2006-06-06 | Solexa Limited | Labelled nucleotides |
US20030175709A1 (en) | 2001-12-20 | 2003-09-18 | Murphy George L. | Method and system for depleting rRNA populations |
EP1321477A1 (fr) | 2001-12-22 | 2003-06-25 | Ulf Grawunder | Procédure pour la production de cellules précurseur lymphocytaires, génétiquement modifiées et leur utilisation pour la production de protéines de liaison hétérologues |
US20030177105A1 (en) | 2002-03-18 | 2003-09-18 | Weimin Xiao | Gene expression programming algorithm |
US20030203370A1 (en) | 2002-04-30 | 2003-10-30 | Zohar Yakhini | Method and system for partitioning sets of sequence groups with respect to a set of subsequence groups, useful for designing polymorphism-based typing assays |
US20040029264A1 (en) | 2002-08-08 | 2004-02-12 | Robbins Neil F. | Advanced roller bottle system for cell and tissue culturing |
US20070166705A1 (en) | 2002-08-23 | 2007-07-19 | John Milton | Modified nucleotides |
WO2004018497A2 (fr) | 2002-08-23 | 2004-03-04 | Solexa Limited | Nucleotides modifies |
US20040121373A1 (en) | 2002-09-19 | 2004-06-24 | Friedlander Ernest J. | Fragmentation of DNA |
US7865534B2 (en) | 2002-09-30 | 2011-01-04 | Genstruct, Inc. | System, method and apparatus for assembling and mining life science data |
US20040161773A1 (en) | 2002-09-30 | 2004-08-19 | The Children's Mercy Hospital | Subtelomeric DNA probes and method of producing the same |
US20050003369A1 (en) | 2002-10-10 | 2005-01-06 | Affymetrix, Inc. | Method for depleting specific nucleic acids from a mixture |
US20050112590A1 (en) | 2002-11-27 | 2005-05-26 | Boom Dirk V.D. | Fragmentation-based methods and systems for sequence variation detection and discovery |
US7323305B2 (en) | 2003-01-29 | 2008-01-29 | 454 Life Sciences Corporation | Methods of amplifying and sequencing nucleic acids |
US20040209299A1 (en) | 2003-03-07 | 2004-10-21 | Rubicon Genomics, Inc. | In vitro DNA immortalization and whole genome amplification using libraries generated from randomly fragmented DNA |
US7041481B2 (en) | 2003-03-14 | 2006-05-09 | The Regents Of The University Of California | Chemical amplification based on fluid partitioning |
USRE41780E1 (en) | 2003-03-14 | 2010-09-28 | Lawrence Livermore National Security, Llc | Chemical amplification based on fluid partitioning in an immiscible liquid |
WO2004083819A2 (fr) | 2003-03-17 | 2004-09-30 | Trace Genetics, Inc | Marqueur moleculaire d'echantillon medico-legal |
US8114027B2 (en) | 2003-04-01 | 2012-02-14 | Copan Innovation Limited | Swab for collecting biological specimens |
US20070042369A1 (en) | 2003-04-09 | 2007-02-22 | Omicia Inc. | Methods of selection, reporting and analysis of genetic markers using borad-based genetic profiling applications |
US20080125324A1 (en) | 2003-05-12 | 2008-05-29 | Fred Hutchinson Cancer Research Center | Methods for haplotyping genomic dna |
US20050032095A1 (en) | 2003-05-23 | 2005-02-10 | Wigler Michael H. | Virtual representations of nucleotide sequences |
US20050059048A1 (en) | 2003-06-20 | 2005-03-17 | Illumina, Inc. | Methods and compositions for whole genome amplification and genotyping |
WO2005003304A2 (fr) | 2003-06-20 | 2005-01-13 | Illumina, Inc. | Methodes et compositions utiles pour l'amplification et le genotypage du genome tout entier |
US20080076118A1 (en) | 2003-06-30 | 2008-03-27 | Nigel Tooke | Oligonucleotide Ligation Assay By Detecting Released Pyrophosphate |
US20050048505A1 (en) | 2003-09-03 | 2005-03-03 | Fredrick Joseph P. | Methods to detect cross-contamination between samples contacted with a multi-array substrate |
US7537889B2 (en) | 2003-09-30 | 2009-05-26 | Life Genetics Lab, Llc. | Assay for quantitation of human DNA using Alu elements |
US20100196911A1 (en) | 2003-10-06 | 2010-08-05 | Cerner Innovation, Inc. | Automated identification of genetic test result duplication |
US7049077B2 (en) | 2003-10-29 | 2006-05-23 | Bioarray Solutions Ltd. | Multiplexed nucleic acid analysis by fragmentation of double-stranded DNA |
US20060024681A1 (en) | 2003-10-31 | 2006-02-02 | Agencourt Bioscience Corporation | Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof |
US20050186589A1 (en) | 2003-11-07 | 2005-08-25 | University Of Massachusetts | Interspersed repetitive element RNAs as substrates, inhibitors and delivery vehicles for RNAi |
US20090191565A1 (en) | 2003-11-12 | 2009-07-30 | Helicos Biosciences Corporation | Short cycle methods for sequencing polynucleotides |
US7169560B2 (en) | 2003-11-12 | 2007-01-30 | Helicos Biosciences Corporation | Short cycle methods for sequencing polynucleotides |
US20070162983A1 (en) | 2003-11-19 | 2007-07-12 | Evotec Neurosciences Gmbh | Diagnostic and therapeutic use of the human sgpl1 gene and protein for neurodegenerative diseases |
US20050214811A1 (en) | 2003-12-12 | 2005-09-29 | Margulies David M | Processing and managing genetic information |
US8529744B2 (en) | 2004-02-02 | 2013-09-10 | Boreal Genomics Corp. | Enrichment of nucleic acid targets |
US20100248984A1 (en) | 2004-02-13 | 2010-09-30 | Signature Genomics Laboratory | Method for precise genetic testing by genomic hybridization |
EP1564306A2 (fr) | 2004-02-17 | 2005-08-17 | Affymetrix, Inc. | Procédé de fragmentation et de marquage d'ADN |
US20060195269A1 (en) | 2004-02-25 | 2006-08-31 | Yeatman Timothy J | Methods and systems for predicting cancer outcome |
US20100216151A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20050272065A1 (en) | 2004-03-02 | 2005-12-08 | Orion Genomics Llc | Differential enzymatic fragmentation by whole genome amplification |
US20080176209A1 (en) | 2004-04-08 | 2008-07-24 | Biomatrica, Inc. | Integration of sample storage and sample management for life science |
US20060030536A1 (en) | 2004-04-09 | 2006-02-09 | University Of South Florida | Combination therapies for cancer and proliferative angiopathies |
US20070244675A1 (en) | 2004-04-22 | 2007-10-18 | Ramot At Tel Aviv University Ltd. | Method and Apparatus for Optimizing Multidimensional Systems |
US20050250147A1 (en) | 2004-05-10 | 2005-11-10 | Macevicz Stephen C | Digital profiling of polynucleotide populations |
US7883849B1 (en) | 2004-05-18 | 2011-02-08 | Olink Ab | Method for amplifying specific nucleic acids in parallel |
US20060008824A1 (en) | 2004-05-20 | 2006-01-12 | Leland Stanford Junior University | Methods and compositions for clonal amplification of nucleic acid |
US20060019304A1 (en) | 2004-07-26 | 2006-01-26 | Paul Hardenbol | Simultaneous analysis of multiple genomes |
US20060177837A1 (en) | 2004-08-13 | 2006-08-10 | Ivan Borozan | Systems and methods for identifying diagnostic indicators |
US8024128B2 (en) | 2004-09-07 | 2011-09-20 | Gene Security Network, Inc. | System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data |
US20060078894A1 (en) | 2004-10-12 | 2006-04-13 | Winkler Matthew M | Methods and compositions for analyzing nucleic acids |
WO2006084132A2 (fr) | 2005-02-01 | 2006-08-10 | Agencourt Bioscience Corp. | Reactifs, methodes et bibliotheques pour sequençage fonde sur des billes |
US20100297626A1 (en) | 2005-02-01 | 2010-11-25 | Life Technologies Corporation | Reagents, Methods, and Libraries for Bead-Based Sequencing |
US7393665B2 (en) | 2005-02-10 | 2008-07-01 | Population Genetics Technologies Ltd | Methods and compositions for tagging and identifying polynucleotides |
US20060183132A1 (en) | 2005-02-14 | 2006-08-17 | Perlegen Sciences, Inc. | Selection probe amplification |
US20060192047A1 (en) | 2005-02-25 | 2006-08-31 | Honeywell International Inc. | Double ducted hovering air-vehicle |
US20110117544A1 (en) | 2005-03-01 | 2011-05-19 | Lingvitae As | Method for producing an amplified polynucleotide sequence |
US20090192047A1 (en) | 2005-04-18 | 2009-07-30 | Genesis Genomics, Inc. | Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers |
US7523117B2 (en) | 2005-05-04 | 2009-04-21 | West Virginia University Research Corporation | Method for data clustering and classification by a graph theory model—network partition into high density subgraphs |
US20070009925A1 (en) | 2005-05-05 | 2007-01-11 | Applera Corporation | Genomic dna sequencing methods and kits |
US20060263789A1 (en) | 2005-05-19 | 2006-11-23 | Robert Kincaid | Unique identifiers for indicating properties associated with entities to which they are attached, and methods for using |
US20060292611A1 (en) | 2005-06-06 | 2006-12-28 | Jan Berka | Paired end sequencing |
US20060281098A1 (en) | 2005-06-14 | 2006-12-14 | Xin Miao | Method and kits for multiplex hybridization assays |
US20060286577A1 (en) | 2005-06-17 | 2006-12-21 | Xiyu Jia | Methods for detection of methylated DNA |
US20060292585A1 (en) | 2005-06-24 | 2006-12-28 | Affymetrix, Inc. | Analysis of methylation using nucleic acid arrays |
WO2007010251A2 (fr) | 2005-07-20 | 2007-01-25 | Solexa Limited | Preparation de matrices pour sequencage d'acides nucleiques |
US20070020640A1 (en) | 2005-07-21 | 2007-01-25 | Mccloskey Megan L | Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis |
US20070161013A1 (en) | 2005-08-18 | 2007-07-12 | Quest Diagnostics Inc | Cystic fibrosis transmembrane conductance regulator gene mutations |
US7666593B2 (en) | 2005-08-26 | 2010-02-23 | Helicos Biosciences Corporation | Single molecule sequencing of captured nucleic acids |
US20090220955A1 (en) | 2005-09-20 | 2009-09-03 | Veridex Llc | Methods and composition to generate unique sequence dna probes labeling of dna probes and the use of these probes |
US20080280955A1 (en) | 2005-09-30 | 2008-11-13 | Perlegen Sciences, Inc. | Methods and compositions for screening and treatment of disorders of blood glucose regulation |
US20070212704A1 (en) | 2005-10-03 | 2007-09-13 | Applera Corporation | Compositions, methods, and kits for amplifying nucleic acids |
US20070092883A1 (en) | 2005-10-26 | 2007-04-26 | De Luwe Hoek Octrooien B.V. | Methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) |
US20070128624A1 (en) | 2005-11-01 | 2007-06-07 | Gormley Niall A | Method of preparing libraries of template polynucleotides |
US20120021930A1 (en) | 2005-11-22 | 2012-01-26 | Stichting Dienst Landbouwkundig Onderzoek | Multiplex Nucleic Acid Detection |
WO2007061284A1 (fr) | 2005-11-22 | 2007-05-31 | Plant Research International B.V. | Detection multiplexe d'acides nucleiques |
US20070114362A1 (en) | 2005-11-23 | 2007-05-24 | Illumina, Inc. | Confocal imaging methods and apparatus |
EP2437191A2 (fr) | 2005-11-26 | 2012-04-04 | Gene Security Network LLC | Système et procédé pour nettoyer des données génétiques bruyantes et au moyen de phénotypes génétiques et de données cliniques pour faire des prédictions |
US20100137163A1 (en) | 2006-01-11 | 2010-06-03 | Link Darren R | Microfluidic Devices and Methods of Use in The Formation and Control of Nanoreactors |
US7537897B2 (en) | 2006-01-23 | 2009-05-26 | Population Genetics Technologies, Ltd. | Molecular counting |
US7544473B2 (en) | 2006-01-23 | 2009-06-09 | Population Genetics Technologies Ltd. | Nucleic acid analysis using sequence tokens |
US20090099041A1 (en) | 2006-02-07 | 2009-04-16 | President And Fellows Of Harvard College | Methods for making nucleotide probes for sequencing and synthesis |
US20090129647A1 (en) | 2006-03-10 | 2009-05-21 | Koninklijke Philips Electronics N.V. | Methods and systems for identification of dna patterns through spectral analysis |
US20070264653A1 (en) | 2006-03-10 | 2007-11-15 | Kurt Berlin | Method of identifying a biological sample for methylation analysis |
WO2007107717A1 (fr) | 2006-03-21 | 2007-09-27 | Ucl Business Plc | Biomarqueurs des troubles osseux sensibles aux biphosphonates |
US20110015863A1 (en) | 2006-03-23 | 2011-01-20 | The Regents Of The University Of California | Method for identification and sequencing of proteins |
WO2007123744A2 (fr) | 2006-03-31 | 2007-11-01 | Solexa, Inc. | Systèmes et procédés pour analyse de séquençage par synthèse |
US20070238122A1 (en) | 2006-04-10 | 2007-10-11 | Nancy Allbritton | Systems and methods for efficient collection of single cells and colonies of cells and fast generation of stable transfectants |
US7282337B1 (en) | 2006-04-14 | 2007-10-16 | Helicos Biosciences Corporation | Methods for increasing accuracy of nucleic acid sequencing |
US20110021366A1 (en) | 2006-05-03 | 2011-01-27 | James Chinitz | Evaluating genetic disorders |
US7957913B2 (en) | 2006-05-03 | 2011-06-07 | Population Diagnostics, Inc. | Evaluating genetic disorders |
US20080014589A1 (en) | 2006-05-11 | 2008-01-17 | Link Darren R | Microfluidic devices and methods of use thereof |
US20080003142A1 (en) | 2006-05-11 | 2008-01-03 | Link Darren R | Microfluidic devices |
WO2007135368A2 (fr) | 2006-05-18 | 2007-11-29 | Solexa Limited | Composés de type teinte et application de leurs conjugués marqués |
US20080090239A1 (en) | 2006-06-14 | 2008-04-17 | Daniel Shoemaker | Rare cell analysis using sample splitting and dna tags |
US20130288242A1 (en) | 2006-06-14 | 2013-10-31 | Roland Stoughton | Determination of fetal aneuploidy by quantification of genomic dna from mixed samples |
US20100035243A1 (en) | 2006-07-10 | 2010-02-11 | Nanosphere, Inc. | Ultra-sensitive detection of analytes |
US7985716B2 (en) | 2006-09-22 | 2011-07-26 | Uchicago Argonne, Llc | Nucleic acid sample purification and enrichment with a thermo-affinity microfluidic sub-circuit |
US20080085836A1 (en) | 2006-09-22 | 2008-04-10 | Kearns William G | Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy |
US20080081330A1 (en) | 2006-09-28 | 2008-04-03 | Helicos Biosciences Corporation | Method and devices for analyzing small RNA molecules |
US7960120B2 (en) | 2006-10-06 | 2011-06-14 | Illumina Cambridge Ltd. | Method for pair-wise sequencing a plurality of double stranded target polynucleotides |
US20100143908A1 (en) | 2006-11-15 | 2010-06-10 | Biospherex, Llc, A Limited Liability Company | Multitag sequencing ecogenomics analysis-us |
WO2008067551A2 (fr) | 2006-11-30 | 2008-06-05 | Navigenics Inc. | Procédés et systèmes d'analyse génétique |
US20090026082A1 (en) | 2006-12-14 | 2009-01-29 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale FET arrays |
US20100197507A1 (en) | 2006-12-14 | 2010-08-05 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale fet arrays |
US20090127589A1 (en) | 2006-12-14 | 2009-05-21 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale FET arrays |
US20100282617A1 (en) | 2006-12-14 | 2010-11-11 | Ion Torrent Systems Incorporated | Methods and apparatus for detecting molecular interactions using fet arrays |
US20100188073A1 (en) | 2006-12-14 | 2010-07-29 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale fet arrays |
US20090042206A1 (en) | 2007-01-16 | 2009-02-12 | Somalogic, Inc. | Multiplexed Analyses of Test Samples |
US7862999B2 (en) | 2007-01-17 | 2011-01-04 | Affymetrix, Inc. | Multiplex targeted amplification using flap nuclease |
US7835871B2 (en) | 2007-01-26 | 2010-11-16 | Illumina, Inc. | Nucleic acid sequencing system and method |
US20110009278A1 (en) | 2007-01-26 | 2011-01-13 | Illumina, Inc. | Nucleic acid sequencing system and method |
US8165821B2 (en) | 2007-02-05 | 2012-04-24 | Applied Biosystems, Llc | System and methods for indel identification using short read sequencing |
US20080269068A1 (en) | 2007-02-06 | 2008-10-30 | President And Fellows Of Harvard College | Multiplex decoding of sequence tags in barcodes |
US7642056B2 (en) | 2007-03-14 | 2010-01-05 | Korea Institute Of Science And Technology | Method and kit for detecting a target protein using a DNA aptamer |
US20090019156A1 (en) | 2007-04-04 | 2009-01-15 | Zte Corporation | System and Method of Providing Services via a Peer-To-Peer-Based Next Generation Network |
US7774962B1 (en) | 2007-04-27 | 2010-08-17 | David Ladd | Removable and reusable tags for identifying bottles, cans, and the like |
US20080293589A1 (en) | 2007-05-24 | 2008-11-27 | Affymetrix, Inc. | Multiplex locus specific amplification |
US20090035777A1 (en) | 2007-06-19 | 2009-02-05 | Mark Stamatios Kokoris | High throughput nucleic acid sequencing by expansion |
US8283116B1 (en) | 2007-06-22 | 2012-10-09 | Ptc Therapeutics, Inc. | Methods of screening for compounds for treating spinal muscular atrophy using SMN mRNA translation regulation |
US20090009904A1 (en) | 2007-06-26 | 2009-01-08 | Kei Yasuna | Method for forming servo pattern and magnetic disk drive |
US20090029385A1 (en) | 2007-07-26 | 2009-01-29 | Pacific Biosciences Of California, Inc. | Molecular redundant sequencing |
US20120252020A1 (en) | 2007-08-17 | 2012-10-04 | Predictive Biosciences, Inc. | Screening Assay for Bladder Cancer |
WO2009036525A2 (fr) | 2007-09-21 | 2009-03-26 | Katholieke Universiteit Leuven | Outils et procédés pour tests génétiques ayant recours à un séquençage de dernière génération |
US20090105081A1 (en) | 2007-10-23 | 2009-04-23 | Roche Nimblegen, Inc. | Methods and systems for solution based sequence enrichment |
US20090119313A1 (en) | 2007-11-02 | 2009-05-07 | Ioactive Inc. | Determining structure of binary data using alignment algorithms |
US20140136120A1 (en) | 2007-11-21 | 2014-05-15 | Cosmosid Inc. | Direct identification and measurement of relative populations of microorganisms with direct dna sequencing and probabilistic methods |
US8463895B2 (en) | 2007-11-29 | 2013-06-11 | International Business Machines Corporation | System and computer program product to predict edges in a non-cumulative graph |
WO2009076238A2 (fr) | 2007-12-05 | 2009-06-18 | Complete Genomics, Inc. | Détermination efficace des bases dans les réactions de séquençage |
US20100301042A1 (en) | 2007-12-12 | 2010-12-02 | Sartorius Stedim Biotech Gmbh | Container with flexible walls |
US20090156412A1 (en) | 2007-12-17 | 2009-06-18 | Helicos Biosciences Corporation | Surface-capture of target nucleic acids |
US20090163366A1 (en) | 2007-12-24 | 2009-06-25 | Helicos Biosciences Corporation | Two-primer sequencing for high-throughput expression analysis |
US20090203014A1 (en) | 2008-01-02 | 2009-08-13 | Children's Medical Center Corporation | Method for diagnosing autism spectrum disorder |
US20090181389A1 (en) | 2008-01-11 | 2009-07-16 | Signosis, Inc., A California Corporation | Quantitative measurement of nucleic acid via ligation-based linear amplification |
US20090202984A1 (en) | 2008-01-17 | 2009-08-13 | Sequenom, Inc. | Single molecule nucleic acid sequence analysis processes and compositions |
US20110034342A1 (en) | 2008-02-12 | 2011-02-10 | Codexis, Inc. | Method of generating an optimized, diverse population of variants |
US20090233814A1 (en) | 2008-02-15 | 2009-09-17 | Life Technologies Corporation | Methods and Apparatuses for Nucleic Acid Shearing by Sonication |
US20090226975A1 (en) | 2008-03-10 | 2009-09-10 | Illumina, Inc. | Constant cluster seeding |
US9074244B2 (en) | 2008-03-11 | 2015-07-07 | Affymetrix, Inc. | Array-based translocation and rearrangement assays |
US20090318310A1 (en) | 2008-04-21 | 2009-12-24 | Softgenetics Llc | DNA Sequence Assembly Methods of Short Reads |
US20090298064A1 (en) | 2008-05-29 | 2009-12-03 | Serafim Batzoglou | Genomic Sequencing |
US20090301382A1 (en) | 2008-06-04 | 2009-12-10 | Patel Gordhanbhai N | Monitoring System Based on Etching of Metals |
US20100086926A1 (en) | 2008-07-23 | 2010-04-08 | David Craig | Method of characterizing sequences from genetic material samples |
US20100035252A1 (en) | 2008-08-08 | 2010-02-11 | Ion Torrent Systems Incorporated | Methods for sequencing individual nucleic acids under tension |
WO2010024894A1 (fr) | 2008-08-26 | 2010-03-04 | 23Andme, Inc. | Données de traitement issues de puces de génotypage |
US20100063742A1 (en) | 2008-09-10 | 2010-03-11 | Hart Christopher E | Multi-scale short read assembly |
US20100069263A1 (en) | 2008-09-12 | 2010-03-18 | Washington, University Of | Sequence tag directed subassembly of short sequencing reads into long sequencing reads |
US20120115736A1 (en) | 2008-09-19 | 2012-05-10 | Pacific Biosciences Of California, Inc. | Nucleic acid sequence analysis |
US20100076185A1 (en) | 2008-09-22 | 2010-03-25 | Nils Adey | Selective Processing of Biological Material on a Microarray Substrate |
US20100086914A1 (en) | 2008-10-03 | 2010-04-08 | Roche Molecular Systems, Inc. | High resolution, high throughput hla genotyping by clonal sequencing |
US20100300559A1 (en) | 2008-10-22 | 2010-12-02 | Ion Torrent Systems, Inc. | Fluidics system for sequential delivery of reagents |
US20100137143A1 (en) | 2008-10-22 | 2010-06-03 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
US20110301042A1 (en) | 2008-11-11 | 2011-12-08 | Helicos Biosciences Corporation | Methods of sample encoding for multiplex analysis of samples by single molecule sequencing |
US8462161B1 (en) | 2009-01-20 | 2013-06-11 | Kount Inc. | System and method for fast component enumeration in graphs with implicit edges |
US20100285578A1 (en) | 2009-02-03 | 2010-11-11 | Network Biosystems, Inc. | Nucleic Acid Purification |
WO2010115154A1 (fr) | 2009-04-02 | 2010-10-07 | Fluidigm Corporation | Procédé d'amplification à amorce multiple pour codage à barres d'acides nucléiques cibles |
US20100311061A1 (en) | 2009-04-27 | 2010-12-09 | Pacific Biosciences Of California, Inc. | Real-time sequencing methods and systems |
US20110004413A1 (en) | 2009-04-29 | 2011-01-06 | Complete Genomics, Inc. | Method and system for calling variations in a sample polynucleotide sequence with respect to a reference polynucleotide sequence |
US20130337447A1 (en) | 2009-04-30 | 2013-12-19 | Good Start Genetics, Inc. | Methods and compositions for evaluating genetic markers |
US20120165202A1 (en) | 2009-04-30 | 2012-06-28 | Good Start Genetics, Inc. | Methods and compositions for evaluating genetic markers |
EP2425240A2 (fr) | 2009-04-30 | 2012-03-07 | Good Start Genetics, Inc. | Procédés et compositions d'évaluation de marqueurs génétiques |
WO2010126614A2 (fr) | 2009-04-30 | 2010-11-04 | Good Start Genetics, Inc. | Procédés et compositions d'évaluation de marqueurs génétiques |
US20100304982A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems, Inc. | Scaffolded nucleic acid polymer particles and methods of making and using |
US20100301398A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
US20100300895A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems, Inc. | Apparatus and methods for performing electrochemical reactions |
WO2011006020A1 (fr) | 2009-07-10 | 2011-01-13 | Qualcomm Incorporated | Procédés et appareils de détection d'identificateurs |
US20110224105A1 (en) | 2009-08-12 | 2011-09-15 | Nugen Technologies, Inc. | Methods, compositions, and kits for generating nucleic acid products substantially free of template nucleic acid |
US20110166029A1 (en) | 2009-09-08 | 2011-07-07 | David Michael Margulies | Compositions And Methods For Diagnosing Autism Spectrum Disorders |
US20120179384A1 (en) | 2009-09-10 | 2012-07-12 | Masayuki Kuramitsu | Method for analyzing nucleic acid mutation using array comparative genomic hybridization technique |
US20110092375A1 (en) | 2009-10-19 | 2011-04-21 | University Of Massachusetts Medical School | Deducing Exon Connectivity by RNA-Templated DNA Ligation/Sequencing |
US20110098193A1 (en) | 2009-10-22 | 2011-04-28 | Kingsmore Stephen F | Methods and Systems for Medical Sequencing Analysis |
US20120245041A1 (en) | 2009-11-04 | 2012-09-27 | Sydney Brenner | Base-by-base mutation screening |
WO2011066476A1 (fr) | 2009-11-25 | 2011-06-03 | Quantalife, Inc. | Procédés et compositions destinés à détecter un matériel génétique |
US20110159499A1 (en) | 2009-11-25 | 2011-06-30 | Quantalife, Inc. | Methods and compositions for detecting genetic material |
WO2011067378A1 (fr) | 2009-12-03 | 2011-06-09 | Olink Genomics Ab | Procédé pour l'amplification d'un acide nucléique cible |
US8474228B2 (en) | 2009-12-08 | 2013-07-02 | Life Technologies Corporation | Packaging systems and methods for transporting vials |
US20120214678A1 (en) | 2010-01-19 | 2012-08-23 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acids in maternal samples |
US20120270739A1 (en) | 2010-01-19 | 2012-10-25 | Verinata Health, Inc. | Method for sample analysis of aneuploidies in maternal samples |
WO2011102998A2 (fr) | 2010-02-19 | 2011-08-25 | Helicos Biosciences Corporation | Méthodes de détection d'acides nucléiques fœtaux et de diagnostic d'anomalies fœtales |
US20110257889A1 (en) | 2010-02-24 | 2011-10-20 | Pacific Biosciences Of California, Inc. | Sequence assembly and consensus sequence determination |
US20110230365A1 (en) | 2010-03-22 | 2011-09-22 | Elizabeth Rohlfs | Mutations Associated With Cystic Fibrosis |
US20130129755A1 (en) | 2010-03-25 | 2013-05-23 | Agency For Science, Technology And Research | Method of producing recombinant proteins with mannose-terminated n-glycans |
US20140206552A1 (en) | 2010-05-18 | 2014-07-24 | Natera, Inc. | Methods for preimplantation genetic diagnosis by sequencing |
US20110288780A1 (en) | 2010-05-18 | 2011-11-24 | Gene Security Network Inc. | Methods for Non-Invasive Prenatal Ploidy Calling |
US20120270212A1 (en) | 2010-05-18 | 2012-10-25 | Gene Security Network Inc. | Methods for Non-Invasive Prenatal Ploidy Calling |
WO2011155833A2 (fr) | 2010-06-09 | 2011-12-15 | Keygene N.V. | Code-barres de séquences combinatoires pour criblage à haut débit |
US20120015050A1 (en) | 2010-06-18 | 2012-01-19 | Myriad Genetics, Incorporated | Methods and materials for assessing loss of heterozygosity |
WO2012006291A2 (fr) | 2010-07-06 | 2012-01-12 | Life Technologies Corporation | Systèmes et procédés pour détecter une variation de nombre de copies |
US20120046877A1 (en) | 2010-07-06 | 2012-02-23 | Life Technologies Corporation | Systems and methods to detect copy number variation |
US20130183672A1 (en) | 2010-07-09 | 2013-07-18 | Cergentis B.V. | 3-d genomic region of interest sequencing strategies |
US20120059594A1 (en) | 2010-08-02 | 2012-03-08 | Population Diagnostics, Inc. | Compositions and methods for discovery of causative mutations in genetic disorders |
US9567639B2 (en) | 2010-08-06 | 2017-02-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US20130332081A1 (en) | 2010-09-09 | 2013-12-12 | Omicia Inc | Variant annotation, analysis and selection tool |
WO2012040387A1 (fr) | 2010-09-24 | 2012-03-29 | The Board Of Trustees Of The Leland Stanford Junior University | Capture directe, amplification et séquençage d'adn cible à l'aide d'amorces immobilisées |
US20120074925A1 (en) | 2010-09-27 | 2012-03-29 | Nabsys, Inc. | Assay Methods Using Nicking Endonucleases |
US20120079980A1 (en) | 2010-09-30 | 2012-04-05 | Temptime Corporation | Color-changing emulsions for freeze indicators |
WO2012051208A2 (fr) | 2010-10-11 | 2012-04-19 | Complete Genomics, Inc. | Identification de réarrangements dans un génome séquencé |
US20120164630A1 (en) | 2010-12-23 | 2012-06-28 | Good Start Genetics, Inc. | Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction |
US20160003812A1 (en) | 2010-12-23 | 2016-01-07 | Good Start Genetics, Inc. | Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction |
WO2012087736A1 (fr) | 2010-12-23 | 2012-06-28 | Good Start Genetics, Inc. | Méthodes de conservation de l'intégrité et d'identification d'un modèle d'acide nucléique dans une réaction de séquençage multiplexée |
US20130275103A1 (en) | 2011-01-25 | 2013-10-17 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
WO2012109500A2 (fr) | 2011-02-09 | 2012-08-16 | Bio-Rad Laboratories, Inc. | Analyse d'acides nucléiques |
US20120216151A1 (en) | 2011-02-22 | 2012-08-23 | Cisco Technology, Inc. | Using Gestures to Schedule and Manage Meetings |
US20120236861A1 (en) | 2011-03-09 | 2012-09-20 | Annai Systems, Inc. | Biological data networks and methods therefor |
WO2012134884A1 (fr) | 2011-03-31 | 2012-10-04 | Good Start Genetics, Inc. | Identification d'une matrice d'acides nucléiques dans une réaction de séquençage multiplex |
US20120258461A1 (en) | 2011-04-05 | 2012-10-11 | Weisbart Richard H | Methods for determining and inhibiting rheumatoid arthritis associated with the braf oncogene in a subject |
WO2012149171A1 (fr) | 2011-04-27 | 2012-11-01 | The Regents Of The University Of California | Conception de sondes cadenas pour effectuer un séquençage génomique ciblé |
EP2716766A1 (fr) | 2011-05-31 | 2014-04-09 | Berry Genomics Co., Ltd. | Kits, dispositifs et procédés pour détecter le nombre de copies chromosomiques d'un embryon ou d'une tumeur |
US20130130921A1 (en) | 2011-05-31 | 2013-05-23 | Berry Genomics Co., Ltd. | Kit, a Device and a Method for Detecting Copy Number of Fetal Chromosomes or Tumor Cell Chromosomes |
WO2012170725A2 (fr) | 2011-06-07 | 2012-12-13 | Mount Sinai School Of Medicine | Matériels et méthode pour l'identification de vecteurs d'amyotrophie spinale |
US20140318274A1 (en) | 2011-06-09 | 2014-10-30 | Agilent Technologies, Inc. | Injection needle cartridge with integrated sealing force generator |
US20130178378A1 (en) | 2011-06-09 | 2013-07-11 | Andrew C. Hatch | Multiplex digital pcr |
US8496166B2 (en) | 2011-08-23 | 2013-07-30 | Eagile Inc. | System for associating RFID tag with UPC code, and validating associative encoding of same |
US20140228226A1 (en) | 2011-09-21 | 2014-08-14 | Bgi Health Service Co., Ltd. | Method and system for determining chromosome aneuploidy of single cell |
US9228233B2 (en) | 2011-10-17 | 2016-01-05 | Good Start Genetics, Inc. | Analysis methods |
WO2013058907A1 (fr) | 2011-10-17 | 2013-04-25 | Good Start Genetics, Inc. | Méthodes d'identification de mutations associées à des maladies |
US20130344096A1 (en) | 2012-02-16 | 2013-12-26 | Pangu Biopharma Limited | Histidyl-trna synthetases for treating autoimmune and inflammatory diseases |
US20130222388A1 (en) | 2012-02-24 | 2013-08-29 | Callum David McDonald | Method of graph processing |
US20150051085A1 (en) | 2012-03-26 | 2015-02-19 | The Johns Hopkins University | Rapid aneuploidy detection |
WO2013148496A1 (fr) | 2012-03-26 | 2013-10-03 | The Johns Hopkins University | Détection rapide d'aneuploïdie |
US10604799B2 (en) | 2012-04-04 | 2020-03-31 | Molecular Loop Biosolutions, Llc | Sequence assembly |
US20130268206A1 (en) | 2012-04-04 | 2013-10-10 | Good Start Genetics, Inc. | Sequence assembly |
US8209130B1 (en) | 2012-04-04 | 2012-06-26 | Good Start Genetics, Inc. | Sequence assembly |
US8738300B2 (en) | 2012-04-04 | 2014-05-27 | Good Start Genetics, Inc. | Sequence assembly |
US20200181696A1 (en) | 2012-04-04 | 2020-06-11 | Molecular Loop Biosolutions, Inc. | Sequence assembly |
US20140255931A1 (en) | 2012-04-04 | 2014-09-11 | Good Start Genetics, Inc. | Sequence assembly |
US20130268474A1 (en) | 2012-04-09 | 2013-10-10 | Marcia M. Nizzari | Variant database |
US8812422B2 (en) | 2012-04-09 | 2014-08-19 | Good Start Genetics, Inc. | Variant database |
US10227635B2 (en) | 2012-04-16 | 2019-03-12 | Molecular Loop Biosolutions, Llc | Capture reactions |
US10683533B2 (en) | 2012-04-16 | 2020-06-16 | Molecular Loop Biosolutions, Llc | Capture reactions |
US20130274146A1 (en) | 2012-04-16 | 2013-10-17 | Good Start Genetics, Inc. | Capture reactions |
US20190233881A1 (en) | 2012-04-16 | 2019-08-01 | Molecular Loop Biosolutions, Llc | Capture reactions |
WO2013177086A1 (fr) | 2012-05-21 | 2013-11-28 | Sequenom, Inc. | Procédés et méthodes d'évaluation non invasive de variations génétiques |
US20130323730A1 (en) | 2012-06-05 | 2013-12-05 | Agilent Technologies, Inc. | Method for determining ploidy of a cell |
WO2013191775A2 (fr) | 2012-06-18 | 2013-12-27 | Nugen Technologies, Inc. | Compositions et procédés pour la sélection négative de séquences d'acide nucléique indésirable |
US20150299767A1 (en) | 2012-06-18 | 2015-10-22 | Nugen Technologies, Inc. | Compositions and methods for negative selection of non-desired nucleic acid sequences |
US20150178445A1 (en) | 2012-08-28 | 2015-06-25 | The Broad Institute, Inc. | Detecting variants in sequencing data and benchmarking |
WO2014052909A2 (fr) | 2012-09-27 | 2014-04-03 | The Children's Mercy Hospital | Système d'analyse du génome et diagnostic de maladie génétique |
US20150310163A1 (en) | 2012-09-27 | 2015-10-29 | The Children's Mercy Hospital | System for genome analysis and genetic disease diagnosis |
US20150258170A1 (en) | 2012-10-10 | 2015-09-17 | The Trustees Of Columbia University In The City Of New York | Diagnosis and Treatment of SMA and SMN Deficiency |
US20140129201A1 (en) | 2012-11-07 | 2014-05-08 | Good Start Genetics, Inc. | Validation of genetic tests |
WO2014074246A1 (fr) | 2012-11-07 | 2014-05-15 | Good Start Genetics, Inc. | Validation de tests génétiques |
US20140222349A1 (en) | 2013-01-16 | 2014-08-07 | Assurerx Health, Inc. | System and Methods for Pharmacogenomic Classification |
US20170044610A1 (en) | 2013-01-23 | 2017-02-16 | Reproductive Genetics and Technology Solutions,LLC | Compositions and methods for genetic analysis of embryos |
US20140342354A1 (en) | 2013-03-12 | 2014-11-20 | Counsyl, Inc. | Systems and methods for prenatal genetic analysis |
US20160034638A1 (en) | 2013-03-14 | 2016-02-04 | University Of Rochester | System and Method for Detecting Population Variation from Nucleic Acid Sequencing Data |
US20140308667A1 (en) | 2013-03-14 | 2014-10-16 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US10202637B2 (en) | 2013-03-14 | 2019-02-12 | Molecular Loop Biosolutions, Llc | Methods for analyzing nucleic acid |
US20150354003A1 (en) | 2013-03-14 | 2015-12-10 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US20170275676A1 (en) | 2013-03-14 | 2017-09-28 | Good Start Genetics, Inc. | Methods for analyzing nucleic acid |
US8778609B1 (en) | 2013-03-14 | 2014-07-15 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US9677124B2 (en) | 2013-03-14 | 2017-06-13 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US9115387B2 (en) | 2013-03-14 | 2015-08-25 | Good Start Genetics, Inc. | Methods for analyzing nucleic acids |
US9535920B2 (en) | 2013-06-03 | 2017-01-03 | Good Start Genetics, Inc. | Methods and systems for storing sequence read data |
US8847799B1 (en) | 2013-06-03 | 2014-09-30 | Good Start Genetics, Inc. | Methods and systems for storing sequence read data |
US8976049B2 (en) | 2013-06-03 | 2015-03-10 | Good Start Genetics, Inc. | Methods and systems for storing sequence read data |
US9292527B2 (en) | 2013-06-03 | 2016-03-22 | Good Start Genetics, Inc. | Methods and systems for storing sequence read data |
US20140361022A1 (en) | 2013-06-11 | 2014-12-11 | J.G. Finneran Associates, Inc. | Rotation-limiting well plate assembly |
US20150056613A1 (en) | 2013-08-21 | 2015-02-26 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
US20160251719A1 (en) | 2013-10-18 | 2016-09-01 | Good Start Genetics, Inc. | Methods for copy number determination |
US20150111208A1 (en) | 2013-10-18 | 2015-04-23 | Good Start Genetics, Inc. | Methods for assessing a genomic region of a subject |
WO2015119941A2 (fr) | 2014-02-04 | 2015-08-13 | Igenomx International Genomics Corporation | Fractionnement du génome |
US20160068889A1 (en) | 2014-09-10 | 2016-03-10 | Good Start Genetics, Inc. | Methods for selectively suppressing non-target sequences |
US20180371533A1 (en) | 2015-01-06 | 2018-12-27 | Good Start Genetics, Inc. | Screening for structural variants |
US10066259B2 (en) | 2015-01-06 | 2018-09-04 | Good Start Genetics, Inc. | Screening for structural variants |
US20160210486A1 (en) | 2015-01-15 | 2016-07-21 | Good Start Genetics, Inc. | Devices and systems for barcoding individual wells and vessels |
US20170183731A1 (en) | 2015-07-29 | 2017-06-29 | Tobias Mann | Nucleic acids and methods for detecting chromosomal abnormalities |
Non-Patent Citations (300)
Title |
---|
Abravaya, 1995, Detection of point mutations with a modified ligase chain reaction (GAP-LCR), Nucleic Acids Research, 23(4): 675-682. |
Adey, 2010, Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition, Genome Biol 11:R119. |
Ageno, 1969, The alkaline denaturation of DNA, Biophys J 9(11):1281-1311. |
Agrawal, 1990, Site-specific functionalization of oligodeoxynucleotides for non-radioactive labelling, Tetrahedron Let 31:1543-1546. |
Akhras, 2007, Connector inversion probe technology: A powerful one-primer multiplex DNA amplification system for numerous scientific applications, PLoSOne 9:e915. |
Akhras, 2007, PathogenMip Assay: a multiplex pathogen detection assay, PLOS One 2:e2230. |
Alazard, 2002, Sequencing of production-scale synthetic oligonucleotides by enriching for coupling failures using matrix-assisted laser desorption/ ionization time of-flight mass spectrometry, Anal Biochem 301:57-64. |
Alazard, 2006, Sequencing oligonucleotides by enrichment of coupling failures using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, Curr Protoc Nucleic Acid Chem, Chapter 10, Unit 10:1-7. |
Albert, 2007, Direct selection of human genomic loci by microarray hybridization, Nature Methods 4(11):903-5. |
Aljanabi, 1997, Universal and rapid salt-extraction of high quality genomic DNA for PCR-based techniques, Nucl. Acids Res 25:4692-4693. |
Antonarakis and the Nomenclature Working Group, 1998, Recommendations for a nomenclature system for human gene mutations, Human Mutation 11:1-3. |
Archer, 2014, Selective and flexible depletion of problematic sequences from RNA-seq libraries at the cDNA stage, BMC Genomics 15(1):401. |
Baihan, 2009, Update on Usher syndrome, Curr Op Neurology 22(1):19-24. |
Ball, 2009, Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells, Nat Biotech 27:361-8. |
Balzer, 2013, Filtering duplicate reads from 454 pyrosequencing data, Bioinformatics 29(7):830-836. |
Barany, 1991, Genetic disease detection and DNA amplification using cloned thermostable ligase, PNAS 88:189-193. |
Barany, 1991, The Ligase Chain Reaction in a PCR World, Genome Research 1:5-16. |
Bau, 2008, Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays, Analytical and Bioanal Chem 393(1):171-5. |
Beer, 1962, Determination of base sequence in nucleic acids with the electron microscope: visibility of a marker, PNAS 48(3):409-416. |
Bell, 2011, Carrier testing for severe childhood recessive diseases by next-generation sequencing, Sci Trans Med 3 (65ra4). |
Benner, 2001, Evolution, language and analogy in functional genomics, Trends Genet 17:414-8. |
Bentzley, 1996, Oligonucleotide sequence and composition determined by matrix-assisted laser desorption/ionization, Anal Chem 68:2141-2146. |
Bentzley, 1998, Base specificity of oligonucleotide digestion by calf spleen phosphodiesterase with matrix-assisted aser desorption ionization analysis, Anal Biochem 258:31-37. |
Bhangale, 2006, Automating resequencing-based detection of insertion-deletion polymorphisms, Nature Genetics 38:1457-1462. |
Bickle, 1993, Biology of DNA Restriction, Microbiol Rev 57(2):434-50. |
Bonfield, 2013, Compression of FASTQ and SAM format sequencing data, PLoS One 8(3):e59190. |
Bose, 2012, BIND—An algorithm for loss-less compression of nucleotide sequence data, J Biosci 37(4):785-789. |
Boyden, 2013, High-throughput screening for SMN1 copy number loss by next-generation sequencing, American Society of Human Genetics 63rd Annual Meeting, Abstract, Oct. 22, 2013. |
Boyer, 1971, DNA restriction and modification mechanisms in bacteria, Ann Rev Microbiol 25:153-76. |
Braasch, 2001, Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA, Chemistry & Biology 8(1):1-7. |
Braslavsky, 2003, Sequence information can be obtained from single DNA molecules, PNAS 100:3960-4. |
Brinkman, 2004, Splice Variants as Cancer Biomarkers, Clin Biochem 37:584. |
Brison, 1982, General method for cloning amplified DNA by differential screening, Mol Cell Biol 2(5):578-587. |
Brown, 1979, Chemical synthesis and cloning of a tyrosine tRNA gene, Methods Enzymol 68:109-51. |
Browne, 2002, Metal ion-catalyzed nucleic Acid alkylation and fragmentation, J Am Chem Soc 124(27):7950-7962. |
Brownstein, 2014, An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge, Genome Biol 15:R53. |
Bunyan, 2004, Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification, British Journal of Cancer, 91(6):1155-59. |
Burrow, 1994, A block-sorting lossless data compression algorithm, Technical Report 124, Digital Equipment Corporation, CA. (24 pages). |
Carpenter, 2013, Pulling out the 1%: whole-genome capture for the targeted enrichment of ancient DNA sequencing libraries, Am J Hum Genet 93(5):852-864. |
Caruthers, 1985, Gene synthesis machines: DNA chemistry and its uses, Science 230:281-285. |
Castellani, 2008, Consenses on the use of and interpretation of cystic fibrosis mutation analysis in clinical practice, J Cyst Fib 7:179-196. |
Challis, 2012, An integrative variant analysis suite for whole exome next-generation sequencing data, BMC Informatics 13(8):1-12. |
Chan, 2011, Natural and engineered nicking endonucleases-from cleavage mechanism to engineering of strand- specificity, Nucl Acids Res 39(1):1-18. |
Chen, 2010, Identification of racehorse and sample contamination by novel 24-plex STR system, Forensic Sci Int: Genetics 4:158-167. |
Chennagiri, 2013, A generalized scalable database model for storing and exploring genetic variations detected using sequencing data, American Society of Human Genetics 63rd Annual Meeting, Abstract, Oct. 22, 2013. |
Chevreux, 1999, Genome sequence assembly using trace signals and additional sequence information, Proc GCB 99:45-56. |
Chirgwin, 1979, Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease, Biochemistry, 18:5294-99. |
Choe, 2010, Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency, J Korean Med Sci 25:163-5. |
Ciotti, 2004, Triplet repeat prmied PCR (TP PCR) in molecular diagnostic testing for Friedrich ataxia, J Mol Diag 6 (4):285-9. |
Cock, 2010, The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants, Nucleic Acids Res 38(6):1767-1771. |
Collins, 2004, Finishing the euchromatic sequence of the human genome, Nature 431(7011):931-45. |
Craig, 1997, Removal of repetitive sequences from FISH probes, Hum Genet 100:472. |
Cremers, 1998, Autosomal Recessive Retinitis Pigmentosa and Cone-Rod Dystrophy Caused by Splice Site Mutations In the Stargardt's Disease Gene ABCR, Hum Mol Gen 7(3):355. |
Cronin, 1996, Cystic Fibrosis Mutation Detection by Hybridization to Light-Generated DNA Probe Arrays Human Mutation 7:244. |
Dahl, 2005, Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments, Nucleic Acids Res 33(8):e71. |
Danecek, 2011, The variant call format and VCFtools, Bioinformatics 27(15):2156-2158. |
De la Bastide, 2007, Assembling genome DNA sequences with PHRAP, Current Protocols in Bioinformatics 17:11.4.1-11.4.15. |
Delcher, 1999, Alignment of whole genomes, Nuc Acids Res 27(11):2369-2376. |
Den Dunnen, 2003, Mutation Nomenclature, Curr Prot Hum Genet 7.13.1-7.13.8. |
Deng et al., 2012, Supplementary Material, Nature Biotechnology, S1-1-S1-1 1, Retrieved from the Internet on Oct. 24, 2012. |
Deng, 2009, targeted bisulfite sequencing reveals changes in DNA methylation, Nat Biotech 27(4):353-360. |
Deorowicz, 2013, Data compression for sequencing data, Alg for Mole Bio 8:25. |
Diep, 2012, Library-free methylation sequencing with bisulfite padlock probes, Nature Methods 9:270-272 (and supplemental information). |
DiGuistini, 2009, De novo sequence assembly of a filamentous fungus using Sanger, 454 and Illumina sequence data, Genome Biology, 10:R94. |
Dolinsek, 2013, Depletion of unwanted nucleic acid templates by selection cleavage: LNAzymes, catalytically active bligonucleotides containing locked nucleic acids, open a new window for detecting rare microbial community members, App Env Microbiol 79(5):1534-1544. |
Dong, 2011, Mutation surveyor: An in silico tool for sequencing analysis, Methods Mol Biol 760:223-37. |
Drmanac, 1992, Sequencing by hybridization: towards an automated sequencing of one million M13 clones arrayed on membranes, Elctrophoresis 13:566-573. |
Dudley, 2009, A quick guide for developing effective bioinformatics programming skills, PLoS Comp Biol 5(12): e1000589. |
Ericsson, 2008, A dual-tag microarray platform for high-performance nucleic acid and protein analyses, Nucl Acids Res 36:e45. |
Fares, 2008, Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?, Prenatal Diagnosis 28:236-41. |
Faulstich, 1997, A sequencing method for RNA oligonucleotides based on mass spectrometry, Anal Chem 69:4349-4353. |
Faust, 2014, SAMBLASTER: fast duplicate marking and structural variant read extraction, Bioinformatics published online May 7, 2014. |
Fitch, 1970, Distinguishing homologs from analogous proteins, Syst Biol 19(2):99-113. |
Flaschker, 2007, Description of the mutations in 15 subjects with variant forms of maple syrup urine disease, J Inherit Metab Dis 30:903-909. |
Frey, 2006, Statistics Hacks 108-115. |
Friedenson, 2005, BRCA1 and BRCA2 Pathways and the Risk of Cancers Other Than Breast or Ovarian, Medscape General Medicine 7(2):60. |
Furtado, 2011, Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification, BMC Med Gen 12:119-125. |
Garber, 2008, Fixing the front end, Nat Biotech 26(10):1101-1104. |
Gemayel, 2010, Variable tandem repeats accelerate evolution of coding and regulatory sequences, Ann Rev Genet 44:445-77. |
Giusti, 1993, Synthesis and Characterization of f'-Fluorescent-dye-labeled Oligonucleotides, PCR Meth Appl 2:223-227. |
Glover, 1995, Sequencing of oligonucleotides using high performance liquid chromatography and electrospray mass spectrometry, Rapid Com Mass Spec 9:897-901. |
Gnirke, 2009, Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing, nature biotechnology 27:182-9. |
Goto, 1994, A Study on Development of a Deductive Object-Oriented Database and Its Application to Genome Analysis, PhD Thesis, Kyushu University, Kyushu, Japan (106 pages). |
Goto, 2010, BioRuby: bioinformatics software for the Ruby programming language, Bioinformatics 26(20):2617-2619. |
Green, 2005, Suicide polymerase endonuclease restriction, a novel technique for enhancing PCR amplification of minor DNA template, Appl Env Microbiol 71(8):4721-4727. |
Guerrero-Fernandez, 2013, FQbin: a compatible and optimize dformat for storing and managing sequence data, IWBBIO Proceedings, Granada 337-344. |
Gupta, 1991, A general method for the synthesis of 3′-sulfhydryl and phosphate group containing oligonucleotides, Nucl Acids Res 19(11):3019-3025. |
Gupta, 2014, Expanding the genetic toolkit: ZFNs, TALENs, and CRISPR-Cas9, J Clin Invest 124(10):4154. |
Gustincich, 1991, A fast method for high-quality genomic DNA extraction from whole human blood, BioTechniques 11 (3):298-302. |
Gut, 1995, A procedure for selective DNA alkylation and detection by mass spectrometry, Nucl Acids Res 23 (8):1367-1373. |
Hallam, 2014, Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput Next-Generation DNA Sequencing, J Mol Diagn 16:180-9. |
Hammond, 1996, Extraction of DNA from preserved animal specimens for use in randomly amplified polymorphic DNA analysis, Anal Biochem 240:298-300. |
Hardenbol, 2003, Multiplexed genotyping with sequence-tagged molecular inversion probes, Nat Biotech 21:673-8. |
Hardenbol, 2005, Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay, Genome Res 15:269-75. |
Harris, 2006, Defects can increase the melting temperature of DNA-nanoparticle assemblies, J Phys Chem B 110 (33):16393-6. |
Harris, 2008, Helicos True Single Molecule Sequencing (tSMS) Science 320:106-109. |
Harris, 2008, Single-molecule DNA sequencing of a viral genome, Science 320(5872):106-9. |
Heger, 2006, Protonation of Cresol Red in Acidic Aqueous Solutions Caused by Freezing, J Phys Chem B 110 (3):1277-1287. |
Heid, 1996, Real time quantitative PCR, Genome Res 6:986-994. |
Hiatt, 2013, Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation, Genome Res 23:843-54. |
Hodges, 2007, Genome-wide in situ exon capture for selective resequencing, Nat Genet 39(12):1522-7. |
Holland, 2008, BioJava: an open-source framework for bioinformatics, Bioinformatics 24(18):2096-2097. |
Homer, 2008, Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays. PLoS One 4(8):e1000167. |
Homer, 2009, BFAST: An alignment tool for large scale genome resequencing, PLoS ONE 4(11):e7767. |
Housley, 2009, SNP discovery and haplotype analysis in the segmentally duplicated DRD5 coding region, Ann Hum Genet 73(3):274-282. |
Huang, 2008, Comparative analysis of common CFTR polymorphisms poly-T, TGrepeats and M470V in a healthy Chinese population, World J Gastroenterol 14(12):1925-30. |
Husemann, 2009, Phylogenetic Comparative Assembly, Algorithms in Bioinformatics: 9th International Workshop, pp. 145-156, Salzberg & Warnow, Eds. Springer-Verlag, Berlin, Heidelberg. |
Illumina, 2010, De Novo assembly using Illumina reads, Technical Note (8 pages). |
International Human Genome Sequencing Consortium, 2004, Finishing the euchromatic sequence of the human genome, Nature 431:931-945. |
Iqbal, 2012, De novo assembly and genotyping of variants using colored de Bruijn graphs, Nature Genetics 44:226-232. |
Isosomppi, 2009, Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protien trafficking to the plasma membrane, Mol Vis 15:1806-1818. |
Jaijo, 2010, Microarray-based mutation analysis of 183 Spanish families with Usher syndrome, Invest Ophthalmol Vis Sci 51(3):1311-7. |
Jensen, 2001, Orthologs and paralogs—we need to get it right, Genome Biol 2(8):1002-1002.3. |
Jones, 2008, Core signaling pathways in human pancreatic cancers revealed by global genomic analyses, Science 321(5897):1801-1806. |
Kambara, 1988, Optimization of Parameters in a DNA Sequenator Using Fluorescence Detection, Nature Biotechnology 6:816-821. |
Kennedy, 2013, Accessing more human genetic variation with short sequencing reads, American Society of Human Genetics 63rd Annual Meeting, Abstract, Oct. 22, 2013. |
Kent, 2002, BLAT—The BLAST-like alignment tool, Genome Res 12(4): 656-664. |
Kerem, 1989, Identification of the cystic fibrosis gene: genetic analysis, Science 245:1073-1080. |
Kinde, 2012, FAST-SeqS: a simple an effective method for detection of aneuploidy by massively parallel sequencing, PLoS One 7(7):e41162. |
Kircher, 2010, High-througput DNA sequencing—concepts and limitations, Bioassays 32:524-36. |
Kirpekar, 1994, Matrix assisted laser desorption/ionization mass spectrometry of enzymatically synthesized RNA up to 150 kDa, Nucl Acids Res 22:3866-3870. |
Klein, 2011, LOCAS—A low coverage sequence assembly tool for re-sequencing projects, PLoS One 6(8):e23455. |
Kneen, 1998, Green fluorescent protein as a noninvasive intracellular pH indicator, Biophys J 74(3):1591-99. |
Koboldt, 2009, VarScan: variant detection in massively parallel sequencing of individual and pooled samples, Bioinformatics 25:2283-85. |
Krawitz, 2010, Microindel detection in short-read sequence data, Bioinformatics 26(6):722-729. |
Kreindler, 2010, Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies, Pharmacol Ther 125 (2):219-229. |
Krishnakumar, 2008, A comprehensive assay for targeted multiplex amplification of human DNA sequences, PNAS 105:9296-301. |
Kumar, 2010, Comparing de novo assemblers for 454 transcriptome data, Genomics 11:571. |
Kurtz, 2004, Versatile and open software for comparing large genomes, Genome Biol 5:R12. |
Lam, 2008, Compressed indexing and local alignment of DNA, Bioinformatics 24(6):791-97. |
Langmead, 2009, Ultrafast and memory-efficient alignment of short DNA sequences to the human genome, Genome Biol 10:R25. |
Larkin, 2007, Clustal W and Clustal X version 2.0, Bioinformatics, 23(21):2947-2948. |
Lecompte, 2001, Multiple alignment of complete sequences (MACS) in the post-genomic era, Gene 270(1-2):17-30. |
Li, 2003, DNA binding and cleavage by the periplasmic nuclease Vvn: a novel structure with a known active site, EMBO J 22(15):4014-4025. |
Li, 2008, SOAP: short oligonucleotide alignment program, Bioinformatics 24(5):713-14. |
Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25 (14):1754-60. |
Li, 2009, SOAP2: an improved ultrafast tool for short read alignment, Bioinformatics 25(15):1966-67. |
Li, 2009, The Sequence Alignment/Map format and SAMtools, Bioinformatics 25(16):2078-9. |
Li, 2010, Fast and accurate long-read alignment with Burrows-Wheeler transform, Bioinformatics 26(5):589-95. |
Li, 2011, Improving SNP discovery by base alignment quality, Bioinformatics 27:1157. |
Li, 2011, Single nucleotide polymorphism genotyping and point mutation detection by ligation on microarrays, J Nanosci Nanotechnol 11(2):994-1003. |
Li, 2012, A new approach to detecting low-level mutations in next-generation sequence data, Genome Biol 13:1-15. |
Li, 2014, HUGO: Hierarchical mUlti-reference Genome compression for aligned reads, JAMIA 21:363-373. |
Lin, 2008, ZOOM! Zillions of Oligos Mapped, Bioinformatics, 24:2431. |
Lin, 2010, A molecular inversion prove assay for detecting alternative splicing, BMC Genomics 11(712):1-14. |
Lin, 2012, Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese, Blood Cells Molecules, and Diseases 48(2):86-90. |
Lipman, 1985, Rapid and sensitive protein similarity searches, Science 227(4693):1435-41. |
Liu, 2012, Comparison of next-generation sequencing systems, J Biomed Biotech 2012:251364. |
Llopis, 1998, Measurement of cytosolic, mitochondrial, and Golgi pH in single living cells with green fluorescent proteins, PNAS 95(12):6803-08. |
Ma, 2006, Application of real-time polymerase chain reaction (RT-PCR), J Am Soc 1-15. |
MacArthur, 2014, Guidelines for investigating causality of sequence variants in human disease, Nature 508:469-76. |
Maddalena, 2005, Technical standards and guidelines: molecular genetic testing for ultra-rare disorders, Genet Med 7:571-83. |
Malewicz, 2010, Pregel: a system for large-scale graph processing, Proc. ACM SIGMOD Int Conf Mgmt Data 135-46. |
Mamanova, 2010, Target-enrichment strategies for next-generation sequencing, Nat Meth 7(2):111-118. |
Margulies, 2005, Genome sequencing in micro-fabricated high-density picotiter reactors, Nature, 437:376-380. |
Marras, 1999, Multiplex detection of single-nucleotide variations using molecular beacons, Genetic Analysis: Biomolecular Engineering 14:151. |
Maxam, 1977, A new method for sequencing DNA, PNAS, 74:560-564. |
May 1988, How Many Species Are There on Earth?, Science 241(4872):1441-9. |
McDonnell, 2007, Antisepsis, disinfection, and sterilization: types, action, and resistance, p. 239. |
McKenna, 2010, The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data, Genome Research 20:1297-1303. |
Messiaen, 1999, Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing, Genetics in Medicine, 1(6):248-253. |
Meyer, 2007, Targeted high-throughput sequencing of tagged nucleic acid samples, Nucleic Acids Research 35(15): e97 (5 pages). |
Meyer, 2008, Parallel tagged sequencing on the 454 platform, Nat Protocol 3(2):267-278. |
Miesenbock, 1998, Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins, Nature 394(6689):192-95. |
Miller, 2010, Assembly algorithms for next-generation sequencing data, Genomics 95:315-327. |
Mills, 2010, Mapping copy number variation by population-scale genome sequencing, Nature 470(7332):59-65. |
Miner, 2004, Molecular barcodes detect redundancy and contamination in hairpin-bisulfite PCR, Nucl Acids Res 32 (17):e135. |
Minton, 2011, Mutation Surveyor: software for DNA sequence analysis, Meth Mol Biol 688:143-53. |
Miyake, 2009, PIK3CA gene mutations and umplification in uterine cancers, Canc Lett 261:120-126. |
Miyazaki, 2009, Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 15-55 of the Duchenne muscular dystrophy (DMD) gene, J Hum Gen 54:127-30. |
Mockler, 2005, Applications of DNA tiling arrays for whole-genome analysis, Genomics 85(1):1-15. |
Mohammed, 2012, Deliminate—a fast and efficient methods for loss-less compression of genomice sequences, Bioinformatics 28(19):2527-2529. |
Moudrianakis, 1965, Base Sequence Determination in Nucleic Acids with the Electron Microscope, III. Chemistry and Microscopy of Guanine-Labeled DNA, PNAS, 53:564-71. |
Mullan, 2002, Multiple sequence alignment—the gateway to further analysis, Brief Bioinform 3(3):303-5. |
Munne, 2012, Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization, Curr Genomics 13(6):463-470. |
Nan, 2006, A novel CFTR mutation found in a Chinese patient with cystic fibrosis, Chinese Med J 119(2):103-9. |
Narang, 1979, Improved phosphotriester method for the synthesis of gene fragments, Meth Enz 68:90-98. |
Nelson, 1989, Bifunctional oligonucleotide probes synthesized using a novel CPG support are able to detect single base pair mutations, Nucl Acids Res 17(18):7187-7194. |
Ng, 2009, Targeted capture and massively parallel sequencing of 12 human exomes, Nature 461(7261):272-6. |
Nicholas, 2002, Strategies for multiple sequence alignment, Biotechniques 32:572-91. |
Nickerson, 1990, Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay, PNAS 87:8923-7. |
Nielsen, 1999, Peptide Nucleic Acids, Protocols and Applications (Norfolk: Horizon Scientific Press, 1-19). |
Nilsson, 2006, Analyzing genes using closing and replicating circles, Trends in Biotechnology 24:83-8. |
Ning, 2001, SSAHA: a fast search method for large DNA databases, Genome Res 11(10):1725-9. |
Nordhoff, 1993, Ion stability of nucleic acids in infrared matrix-assisted laser desorption/ ionization mass spectrometry, Nucl Acid Res 21(15):3347-57. |
Nuttle, 2013, Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions, Nat Meth 10(9):903-909. |
Nuttle, 2014, Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing, Nat Prot 9(6):1496-1513. |
Oefner, 1996, Efficient random sub-cloning of DNA sheared in a recirculating point-sink flow system, Nucleic Acids Res 24(20):3879-3886. |
Oka, 2006, Detection of loss of heterozygosity in the p53 gene in renal cell carcinoma and bladder cancer using the polymerase chain reaction, Mol Carcinogenesis 4(1):10-13. |
Okoniewski, 2013, Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers, Biotechniques 54(2):98-100. |
Okou, 2007, Microarray-based genomic selection for high-throughput reseugencing, Nat Meth 4(11):907-909. |
Oliphant, 2002, BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping, Biotechniques Suppl:56-8, 60-1. |
Ordahl, 1976, Sheared DNA fragment sizing: comparison of techniques, Nucleic Acids Res 3:2985-2999. |
O'Roak, 2012, Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders, Science 338(6114):1619-1622. |
Ostrer, 2001, A genetic profile of contemporary Jewish populations, Nat Rev Genet 2(11):891-8. |
Owens, 1998, Aspects of oligonucleotide and peptide sequencing with MALDI and electrospray mass spectrometry, Bioorg Med Chem 6:1547-1554. |
Parameswaran, 2007, A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing, Nucl Acids Rese 35:e130. |
Parkinson, 2012, Preparation of high-quality next-generation sequencing libraries from picogram quantities of target DNA, Genome Res 22:125-133. |
Pastor, 2010, Conceptual modeling of human genome mutations: a dichotomy between what we have and what we shoudl have, 2010 Proc BIOSTEC Bioinformatics, pp. 160-166. |
Paton, 2000, Conceptual modelling of genomic information, Bioinformatics 16(6):548-57. |
Pearson, 1988, Improved tools for biological sequence comparison, PNAS 85(8):2444-8. |
Pertea, 2003, TIGR gene indices clustering tools (TGICL), Bioinformatics 19(5):651-52. |
Pieles, 1993, Matrix-assisted laser desorption ionization time of-flight mass spectrometry: A powerful tool for the mass and sequence analysis of natural and modified oligonucleotides, Nucleic Acids Res 21:3191-3196. |
Pinho, 2013, MFCompress: a compression tool for FASTA and multi-FASTA data, Bioinformatics 30(1):117-8. |
Porecca(Nature methods (2007) vol. 4, pp. 931-936). * |
Porreca, 2007, Multiplex amplificaiton of large sets of human exons, Nat Meth 4(11):931-936. |
Porreca, 2013, Analytical performance of a Next-Generation DNA sequencing-based clinical workflow for genetic carrier screening, American Society of Human Genetics 63rd Annual Meeting, Abstract, Oct. 22, 2013. |
Pourmand, 2006, PathgoenMIPer: a tool for the design of molecular inversion probes, BMC informatics 7:500. |
Procter, 2006, Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification, Clin Chem 52(7):1276-83. |
Qiagen, 2011, Gentra Puregene handbook, 3d Ed. (72 pages). |
Quail, 2010, DNA: Mechanical Breakage, In Encyclopedia of Life Sciences, John Wiley & Sons Ltd, Chicester (5 pages). |
Rambaut, 1997, Seq-Gen:an application for the Monte Carlo simulation of DNA sequence evolution along phylogenetic trees, Bioinformatics 13:235-38. |
Richards, 2008 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions, Genet Med 10(4):294-300. |
Richter, 2008, MetaSim—A Sequencing Simulator for Genomics and Metagenomics, PLoS ONE 3:e3373. |
Roberts, 1980, Restriction and modification enzymes and their recognition sequences, Nucleic Acids Res 8(1):r63-r80. |
Rodriguez, 2010, Constructions from Dots and Lines, Bull Am Soc Inf Sci Tech 36(6):35-41. |
Rosendahl, 2013, CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?, Gut 62:582-592. |
Rothberg, 2011, An integrated semiconductor device enabling non-optical genome sequencing, Nature 475:348-352. |
Rowntree, 2003, The phenotypic consequences of CFTR mutations, Ann Hum Gen 67:471-485. |
Sanger, 1977, DNA Sequencing with chain-terminating inhibitors, PNAS 74(12):5463-5467. |
Santa Lucia, 1998, A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics, PNAS 95(4):1460-5. |
Sargent, 1987, Isolation of differentially expressed genes, Meth Enzym 152:423-432. |
Sauro, 2004, How Do You Calculate a Z-Score/ Sigma Level?, https://www.measuringusability.com/zcalc.htm (online publication). |
Sauro, 2004, What's a Z-score and Why Use It in Usability Testing?, https://www.measuringusability.com/z.htm (online publication). |
Schadt, 2010, A window into third-generation sequencing, Human Mol Genet 19(R2):R227-40. |
Schatz, 2010, Assembly of large genomes using second-generation sequencing, Genome Res., 20:1165-1173. |
Schiffman (Journal of Clinical Oncology (2007) vol. 25, p. 530). * |
Schiffman, 2009, Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia, Cancer Genetics and Cytogenetics 193:9-18. |
Schneeberger, 2011, Reference-guided assembly of four diverse Arabidopsis thaliana genomes, PNAS 108 (25):10249-10254. |
Schouten, 2002, Relative Quantification of 40 Nucleic Acid Sequences by Multiplex Ligation-Dependent Probe Amplification, Nucle Acids Res 30 (12):257. |
Schrijver, 2005, Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics, J Mol Diag 7 (2):289-299. |
Schuette, 1995, Sequence analysis of phosphorothioate oligonucleotides via matrix-assisted laser desorption ionization time-of-flight mass spectrometry, J Pharm Biomed Anal 13:1195-1203. |
Schwartz, 2009, Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay, J Mol Diag 11(3):211-15. |
Schwartz, 2011, Clinical utility of single nucleotide polymorphism arrays, Clin Lab Med 31(4):581-94. |
Sequeira, 1997, Implementing generic, object-oriented models in biology, Ecological Modeling 94.1:17-31. |
Shagin, 2002, A novel method for SNP detection, Genome Res 12:1935. |
Shen, 2011, High quality DNA sequence capture of 524 disease candidate genes, PNAS 108(16):6549-6554. |
Shen, 2013, Multiplex capture with double-stranded DNA probes, Genome Medicine 5(50):1-8. |
Sievers, 2011, Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega, Mol Syst Biol 7:539. |
Simpson, 2009, ABySS: A parallel assembler for short read sequence data, Genome Res., 19(6):1117-23. |
Slater, 2005, Automated generation of heuristics for biological sequence comparison, BMC Bioinformatics 6:31. |
Smirnov, 1996, Sequencing oligonucleotides by exonuclease digestion and delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry, Anal Biochem 238:19-25. |
Smith, 1985, The synthesis of oligonucleotides containing an aliphatic amino group at the 5′ terminus: synthesis of fluorescent DNA primers for use in DNA sequence analysis, Nucl Acid Res 13:2399-2412. |
Smith, 2010, Highly-multiplexed barcode sequencing: an efficient method for parallel analysis of pooled samples, Nucleic Acids Research 38(13):e142 (8 pages). |
Soni, 2007, Progress toward ultrafast DNA sequencing using solid-state nanopores, Clin Chem 53(11):1996-2001. |
Spanu, 2010, Genome expansion and gene loss in powdery mildew fungi reveal tradeoffs in extreme parasitism, Science 330(6010):1543-46. |
Sproat, 1987, The synthesis of protected 5′-mercapto-2′,5′-dideoxyribonucleoside-3′-O-phosphoramidites; uses of 5′-mercapto-oligodeoxyribonucleotides, Nucl Acid Res 15:4837-4848. |
Streit, 2003, CFTR gene: molecular analysis in patients from South Brazil, Molecular Genetics and Metabolism 78:259-264. |
Strom, 2005, Mutation detection, interpretation, and applications in the clinical laboratory setting, Mutat Res 673:160-67. |
Summerer, 2009, Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing, Genomics 94(6):363-8. |
Summerer, 2010, Targeted High Throughput Sequencing of a Cancer-Related Exome Subset by Specific Sequence Capture With a Fully Automated Microarray Platform, Genomics 95(4):241-246. |
Sunnucks, 1996, Microsatellite and chromosome evolution of parthenogenetic sitobion aphids in Australia, Genetics 144:747-756. |
Tan, 2014, Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing, GigaScience 3(30):1-9. |
Thauvin-Robinet, 2009, The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counseling and newborn screening, J Med Genet 46:752-758. |
Thiyagarajan, 2006, PathogenMIPer: a tool for the design of molecular inversion probes to detect multiple pathogens, BMC Bioinformatics 7:500. |
Thompson, 1994, Clustal W: improving the sensitivity of progressive mulitple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice, Nuc Acids Res 22:4673-80. |
Thompson, 2011, The properties and applications of single-molecule DNA sequencing, Genome Biol 12(2):217. |
Thorstenson, 1998, An Automated Hydrodynamic Process for Controlled, Unbiased DNA Shearing, Genome Res 8(8): 848-855. |
Thorvaldsdottir, 2012, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration, Brief Bioinform 24(2):178-92. |
Tkachuk, 1990, Detection of bcr-abl Fusion in Chronic Myelogeneous Leukemia by in Situ Hybridization, Science 250:559. |
Tobler, 2005, The SNPlex Genotyping System: A Flexible and Scalable Platform for SNP Genotyping, J Biomol Tech 16(4):398. |
Tokino, 1996, Characterization of the human p57 KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis, Human Genetics 96:625-31. |
Treangen, 2011, Repetitive DNA and next-generation sequencing: computational challenges and solutions, Nat Rev Gen 13(1):36-46. |
Turner, 2009, Massively parallel exon capture and library-free resequencing across 16 genomes, Nat Meth 6:315-316. |
Turner, 2009, Methods for genomic partitioning, Ann Rev Hum Gen 10:263-284. |
Umbarger, 2013, Detecting contamination in Next Generation DNA sequencing libraries, American Society of Human Genetics 63rd Annual Meeting, Abstract, Oct. 22, 2013. |
Umbarger, 2014, Next-generation carrier screening, Gen Med 16(2):132-140. |
Veeneman, 2012, Oculus: faster sequence alignment by streaming read compression, BMC Bioinformatics 13:297. |
Wahl, 1979, Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate, PNAS 76:3683-3687. |
Wallace, 1979, Hybridization of synthetic oligodeoxyribonucteotides to dp x 174DNA:the effect of single base pair mismatch, Nucl Acids Res 6:3543-3557. |
Wallace, 1987, Oligonucleotide probes for the screening of recombinant DNA libraries, Meth Enz 152:432-442. |
Wang (Genome Biology (2007) vol. 8, R246.1-246.14). * |
Wang, 2005, Allele quantification using molecular inversion probes (MIP), Nucleic Acids Res 33(21):e183. |
Warner, 1996, A general method for the detection of large CAG repeat expansions by fluorescent PCR, J Med Genet 33(12):1022-6. |
Warren, 2007, Assembling millions of short DNA sequences using SSAKE, Bioinformatics, 23:500-501. |
Waszak, 2010, Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory gene content diversity, PLoS Comp Biol 6(11):e1000988. |
Watson, 2004, Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel, Genetics in Medicine 6(5):387-391. |
Williams, 2003, Restriction endonucleases classification, properties, and applications, Mol Biotechnol 23(3):225-43. |
Wirth, 1999, Quantitative analysis of survival motor neuron copies, Am J Hum Genet 64:1340-1356. |
Wittung, 1997, Extended DNA-Recognition Repertoire of Peptide Nucleic Acid (PNA): PNA-dsDNA Triplex Formed with Cytosine-Rich Homopyrimidine PNA, Biochemistry 36:7973. |
Wu, 1998, Sequencing regular and labeled oligonucleotides using enzymatic digestion and ionspray mass spectrometry, Anal Biochem 263:129-138. |
Wu, 2001, Improved oligonucleotide sequencing by alkaline phosphatase and exonuclease digestions with mass spectrometry, Anal Biochem 290:347-352. |
Xu, 2012, FastUniq: A fast de novo duplicates removal tool for paired short reads, PLoS One 7(12):e52249. |
Yau, 1996, Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis, J Med Gen 33(7):550-8. |
Ye, 2009, Pindel: a pattern growth approach to detect break points of large deletions and medium size insertions from paired-end short reads, Bioinformatics 25(21):2865-2871. |
Yershov, 1996, DNA analysis and diagnostics on oligonucleotide microchips, PNAS 93:4913-4918. |
Yoo, 2009, Applications of DNA microarray in disease diagnostics, J Microbiol Biotech19(7):635-46. |
Yoon, 2014, MicroDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes, Nucl Ac Res 43(5):e28. |
Yoshida, 2004, Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage, Cancer Science 95(11)866-71. |
Yu, 2007, A novel set of DNA methylation markers in urine sediments for sensitive/specific detection of bladder cancer, Clin Cancer Res 13(24):7296-7304. |
Yuan, 1981, Structure and mechanism of multifunctional restriction endonucleases, Ann Rev Biochem 50:285-319. |
Zerbino, 2008, Velvet: Algorithms for de novo short read assembly using de Bruijn graphs, Genome Research 18 (5):821-829. |
Zhang, 2011, Is Mitochondrial tRNAphe Variant m.593T.Ca Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G.A? PLoS ONE 6(10) e26511. |
Zhao, 2009, PGA4genomics for comparative genome assembly based on genetic algorithm optimization, Genomics 94 (4):284-6. |
Zheng, 2011, iAssembler: a package for de novo assembly of Roche-454/Sanger transcriptome sequences, BMC Bioinformatics 12:453. |
Zhou, 2014, Bias from removing read duplication in ultra-deep sequencing experiments, Bioinformatics 30 (8):1073-1080. |
Zhulidov, 2004, Simple cDNA normalization using kamchatka crab duplex-specific nuclease, Nucl Acids Res 32(3):e37. |
Zimmerman, 2010, A novel custom resequencing array for dilated cardiomyopathy, Gen Med 12(5):268-78. |
Zimran, 1990, A glucocerebrosidase fusion gene in Gaucher disease, J Clin Invest 85:219-222. |
Zuckerman, 1987, Efficient methods for attachment of thiol specific probes to the 3′-ends of synthetic bligodeoxyribonucleotides, Nucl Acid Res 15(13):5305-5321. |
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